Assessment of Biochemical Parameters in 8- and 9-Year-Old Children with Excessive Body Weight Participating in a Year-Long Intervention Program.

Childhood obesity represents a significant challenge both clinically and socio-economically. This study aimed to assess specific biochemical parameters, particularly glucose, insulin and lipid profile, before and after a year-long intervention program in 8- and 9-year-old children with excessive body weight living in Szczecin, Poland from 2016 to 2018. The research comprised two phases: screening in elementary schools and intervention in the outpatient clinic of the clinical Pomeranian Medical University hospital. Out of 11,494 8- to 9-year-olds in Szczecin, 42.54% (4890) participated in the screening. In the intervention phase, 515 children were examined. Anthropometric measurements were recorded at each visit, and blood samples were collected during the first and fourth visits. In the statistical analysis, the Kolmogorov-Smirnov, t-Student and ANOVA tests were employed (with statistical significance when p ≤ 0.05). Results highlighted a significant proportion of children exhibiting disruptions in carbohydrate and lipid metabolism. A total of 8.6% of participants had elevated total cholesterol, 9.7% had reduced HDL, 13.4% had elevated LDL, and 21.2% had elevated triglycerides. Initially, abnormal fasting glucose was detected in 4.7% of children, and elevated insulin levels in 3.1%. Metabolic disorders persisted post-intervention despite BMI improvement. The results emphasize the necessity for prolonged programs with frequent follow-ups targeting weight normalization in children.

NGS analysis of collagen type I genes in Polish patients with Osteogenesis imperfecta: a nationwide multicenter study.

Osteogenesis imperfecta (OI) is a rare genetic disorder of the connective tissue. It presents with a wide spectrum of skeletal and extraskeletal features, and ranges in severity from mild to perinatal lethal. The disease is characterized by a heterogeneous genetic background, where approximately 85%-90% of cases have dominantly inherited heterozygous pathogenic variants located in the COL1A1 and COL1A2 genes. This paper presents the results of the first nationwide study, performed on a large cohort of 197 Polish OI patients. Variants were identified using a next-generation sequencing (NGS) custom gene panel and multiplex ligation probe amplification (MLPA) assay. The following OI types were observed: 1 (42%), 2 (3%), 3 (35%), and 4 (20%). Collagen type I pathogenic variants were reported in 108 families. Alterations were observed in α1 and α2 in 70% and 30% of cases, respectively. The presented paper reports 97 distinct causative variants and expands the OI database with 38 novel pathogenic changes. It also enabled the identification of the first glycine-to-tryptophan substitution in the COL1A1 gene and brought new insights into the clinical severity associated with variants localized in "lethal regions". Our results contribute to a better understanding of the clinical and genetic aspects of OI.

Difficulties in Interpreting IGF-1 Levels in Short Stature Children Born Small for Gestational Age (SGA) Treated with Recombinant Human Growth Hormone (rhGH) Based on Data from Six Clinical Centers in Poland.

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.

Guidelines for Preventing and Treating Vitamin D Deficiency: A 2023 Update in Poland.

Introduction: All epidemiological studies suggest that vitamin D deficiency is prevalent among the Polish general population. Since vitamin D deficiency was shown to be among the risk factors for many diseases and for all-cause mortality, concern about this problem led us to update the previous Polish recommendations. Methods: After reviewing the epidemiological evidence, case-control studies and randomized control trials (RCTs), a Polish multidisciplinary group formulated questions on the recommendations for prophylaxis and treatment of vitamin D deficiency both for the general population and for the risk groups of patients. The scientific evidence of pleiotropic effects of vitamin D as well as the results of panelists' voting were reviewed and discussed. Thirty-four authors representing different areas of expertise prepared position statements. The consensus group, representing eight Polish/international medical societies and eight national specialist consultants, prepared the final Polish recommendations. Results: Based on networking discussions, the ranges of total serum 25-hydroxyvitamin D concentration indicating vitamin D deficiency [<20 ng/mL (<50 nmol/L)], suboptimal status [20-30 ng/mL (50-75 nmol/L)], and optimal concentration [30-50 ng/mL (75-125 nmol/L)] were confirmed. Practical guidelines for cholecalciferol (vitamin D3) as the first choice for prophylaxis and treatment of vitamin D deficiency were developed. Calcifediol dosing as the second choice for preventing and treating vitamin D deficiency was introduced. Conclusions: Improving the vitamin D status of the general population and treatment of risk groups of patients must be again announced as healthcare policy to reduce a risk of spectrum of diseases. This paper offers consensus statements on prophylaxis and treatment strategies for vitamin D deficiency in Poland.

Apoptosis Evaluation in Circulating CD34+-Enriched Hematopoietic Stem and Progenitor Cells in Patients with Abnormally Increased Production of Endogenous Glucocorticoids in Course of Cushing's Syndrome.

Abnormalities in hematological parameters of peripheral blood have been noted in patients with endogenous Cushing's Syndrome (CS) in the corticotropin (ACTH)-dependent and ACTH-independent forms. Nevertheless, the exact mechanism of glucocorticoids (GCs) action on human hematopoiesis is still not entirely clear. The aim of the study was to determine whether endogenous excessive production of GCs could affect apoptosis of CD34+ cells enriched in hematopoietic stem and progenitor cells (HSPCs) collected from the peripheral blood of newly diagnosed CS patients. Flow cytometry, Annexin-V enzyme-linked immunosorbent assay, TUNEL assay, real-time quantitative PCR, and microarray RNA/miRNA techniques were used to characterize CS patients' HSPCs. We found that the glucocorticoid receptor (GR) protein expression levels in CS were higher than in healthy controls. A complex analysis of apoptotic status of CS patients' HSPC cells showed that GCs significantly augmented apoptosis in peripheral blood-derived CD34+ cells and results obtained using different methods to detect early and late apoptosis in analyzed cell population were consistent. CS was also associated with significant upregulation in several members of the BCL-2 superfamily and other genes associated with apoptosis control. Furthermore, global gene expression analysis revealed significantly higher expression of genes associated with programmed cell death control in HSPCs from CS patients. These findings suggest that human endogenous GCs have a direct pro-apoptotic activity in hematopoietic CD34+ cells derived from CS subjects before treatment.

Do trace elements influence the course of newly diagnosed type 1 diabetes mellitus?

OBJECTIVE: The etiology of type 1 diabetes mellitus (DM1) is not fully understood. Some studies indicate an excess or deficiency of certain trace elements may affect glucose and insulin metabolism. This study aimed to assess the concentrations of trace elements in children with newly diagnosed DM1. The study group comprised 35 children aged 3-17 years (mean, 8.83±3.55 years). Serum concentrations of selenium, zinc, copper, and arsenic were determined at the time of diagnosis, after ~2 weeks (during insulin treatment), and after 6 months. No trace element deficiency was observed. Selenium levels were increased at all time points (77.61±14.03 µg/l; 70.42±11.04 µg/l; 75.79±12.89 µg/l). Arsenic levels were increased at the time of discharge (0.30±0.24 µg/l) and upon 6 months control visit (0.67±1.98 µg/l) for DM1. Copper levels were elevated at the time of diagnosis (1333±244 µg/l). No significant differences were observed in zinc concentrations between study and control group or between time points. Trace elements in the environment, especially selenium, may increase the incidence of DM1, although further research is required to confirm this association.

Rare clinical manifestation of multiple endocrine neoplasia type 1.

OBJECTIVE: Multiple endocrine neoplasia type 1 (MEN1) is a rare disorder characterized by tumors in various endocrine glands. It is caused by a mutation in the MEN1 gene. This gene encodes menin, a protein that regulates cell proliferation. The clinical manifestation of the syndrome most commonly involves hyperparathyroidism and pancreatic, pituitary gland, and adrenocortical adenomas. Although the first symptoms of the disease usually occur in patients under the age of 20, the data on MEN1 in children is scarce. Here, we report a case study of a familial MEN1 syndrome with a central nervous system ganglioglioma, a manifestation that has not been characterized so far. CASE REPORT: The diagnosis of a 17-year-old boy with hypoglycemia of unknown origin revealed the presence of a pancreatic tumor. As kidney stone disease and acute pancreatitis were reported in his father, and his asymptomatic sister was initially diagnosed with a pancreatic tumor, a familial MEN1 syndrome was suspected. Indeed, a pathogenic mutation within the MEN1 gene was detected. Further diagnosis revealed primary hyperparathyroidism in both children and their father, which is typical of MEN1. The girl also presented with hydrocephalus caused by ganglioglioma of the central nervous system. Surgical treatment was successfully conducted in both children. CONCLUSIONS: The reported family case provides evidence of the diagnostic and therapeutic difficulties related to the MEN1 syndrome. In children, the benefits of an early surgery should be considered in relation to the risks of possible surgical complications and consequences of a loss of endocrine gland function.

Familial dietary intervention in children with excess body weight and its impact on eating habits, anthropometric and biochemical parameters.

Introduction: Obesity is considered a civilisation disease which increases mortality and impairs quality of life, also among children and adolescents. The prevalence of overweight and obesity is steadily increasing in the developmental age population. Environmental factors are responsible for the main reason of excessive adipose tissue accumulation. Among these, poor eating habits and lack of exercise play the largest role. Familial prevalence of obesity and family dietary patterns also receive significant attention. Many specialists believe that the treatment of obesity should be multidirectional, effective and minimally invasive. Therefore, effective and safe methods are being investigated to effectively reduce body weight and improve eating habits. Dietary education programmes are an alternative to improve the health status of obese and overweight children and adolescents. To be fully effective, these programmes should involve the whole family. Aim of the study: In the face of constantly increasing prevalence of overweight and obesity in the developmental age population and the lack of effective methods to combat its occurrence, it seems appropriate to try to assess the effectiveness of a one-year-long dietary education of children and adolescents with excess body weight on their eating habits and the eating habits of their mothers, as well as selected anthropometric and biochemical parameters in these children using a simple educational tool, the Healthy Food Pyramid. Patients and methods: The study group consisted of 68 children with overweight and obesity, patients of the Department of Paediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology of the Developmental Age of the Pomeranian Medical University in Szczecin. The study used a proprietary questionnaire to assess dietary habits. Patients participated in six individual educational meetings over a twelve-month period. Eating habits were assessed in children and mothers before and after dietary intervention. Sixty-seven questionnaires before and after the dietary intervention were used for analysis. Results: Sixty-eight children completed the study. Those who did not complete the study came from families living in rural areas and their mothers mostly had primary or vocational education. One-year dietary education resulted in significant improvements in body weight, waist and hip circumference, WHtR and selected measured carbohydrate and lipid metabolism parameters with the exception of total cholesterol. The one-year dietary intervention did not have the same effect on the change in dietary habits in children and in their mothers.

Effects of 12-Month Interdisciplinary Interventions in 8- and 9-Year-Old Children with Excess Body Weight.

Childhood obesity remains one of the most serious medical challenges of the 21st century. The aim of the study was to obtain epidemiological data on the prevalence of overweight and obesity among 8- and 9-year-old children in Szczecin, and to evaluate the effectiveness of medical intervention in the form of a year of interdisciplinary work with children with excess body weight. The study consisted of two main stages: I-screening, II-intervention. The program was implemented for three consecutive years, starting in 2016-2018. The entire population of 8-9-year-olds in Szczecin is 11,494 children. In the screening part of the study, 4890 children took part, whose parent agreed to participate (42.54%). In the intervention part of the study, we analyzed a group of 515 children. Children were further divided into subgroups according to the number of visits completed. Anthropometric parameters were measured on each visit. The prevalence of overweight and obesity in the screened population was 16.9% and 6.4%, respectively. Statistically significant changes were observed in BMI (Body Mass Index) percentiles and BMI z-scores, as well as WHR (Waist-Hip Ratio) during the one year observation time. The best effects were achieved by the 3rd visit (for the first 6 months of the program). Thereafter, the effects diminished due to the longer interval between the 3rd and 4th visits (6 months). There is the need for long-term programs for the prevention of excessive body weight in children and adolescents with frequent checkpoints.

Nonalcoholic fatty liver disease in children with obesity- observations from one clinical centre in the Western Pomerania region.

Nonalcoholic fatty liver disease (NAFLD) is a growing health problem in the pediatric population, due to the constantly increasing percentage of children with obesity. The objective of the study was to assess the occurrence of NAFLD based on ultrasound (USG) analysis and the use of alanine aminotransferase (ALT) in children with overweight and obesity depending on glucose tolerance. Medical records of 228 consecutive patients aged 2-18 years with overweight and obesity were reviewed retrospectively. Based on the oral glucose tolerance test children were divided into groups according to the severity of carbohydrate metabolism disorders. ALT, lipid parameters and insulin sensitivity indices HOMA, Matsuda and Quicki were analyzed. NAFLD was diagnosed (based on the USG) in 51 patients (23.61%) - the incidence in the impaired glucose tolerance (IGT) and type 2 diabetes (T2DM) group was significantly higher when compared to ones without glucose intolerance. Because of extreme values of metabolic parameters in TDM2 children being outliers, they were not considered in the statistical analysis of the study. 22 (11.58%) patients had elevated ALT values, of which 12 (54.55%) had hepatic steatosis features on ultrasound. 72.73% (n=32) patients with fatty liver features on USG had ALT values considered normal with cut-off point 42 U/l accepted in this study. Almost every fourth obese child in the study group presents features of fatty liver in ultrasound examination. Although ultrasound is not recommended by North American Society For Pediatric Gastroenterology, Hepatology &Nutrition(NASPGHAN) for the diagnosis of NAFLD in children, it allows identifying a high percentage of children with features of fatty liver. This percentage increases significantly in children with glucose intolerance.

Impact of One-Year Dietary Education on Change in Selected Anthropometric and Biochemical Parameters in Children with Excess Body Weight.

Obesity is regarded as a civilization disease that increases mortality and the risk of cardiovascular complications. In Poland, the prevalence of excess body weight in the paediatric population has been steadily increasing. The consequences of excess body weight in the developmental age population affect children's health and destabilize their development. Appropriate dietary interventions are the main non-invasive methods of preventing and treating obesity. They should be aimed at the whole family, optimally with the use of simple tools such as the Healthy Eating Pyramid. Due to the increasing prevalence of excess body weight in the developmental age population and the problems with the treatment of this condition, studies were undertaken in order to determine the impact of a dietary intervention on anthropometric and biochemical parameters in children with excess body weight. A total of 68 (72.3%) children completed the study. Based on BMI SDS, 59 (86.8%) were diagnosed with obesity and 9 (13.2%) with overweight. After the completion of the one-year dietary educational program, a significant improvement in weight loss, waist and hip circumference, as well as the value of the WHtR index was demonstrated. There was also a significant increase in the percentage of muscle tissue and a decrease in the content of adipose tissue in the bodies of examined children. A significant improvement in the parameters of carbohydrate metabolism, and almost all parameters of lipid metabolism, except for total cholesterol. A significant (by 28.0%) reduction in the incidence of fatty liver was also noted. No influence of dietary education on arterial blood pressure was observed.

Childhood Obesity: Position Statement of Polish Society of Pediatrics, Polish Society for Pediatric Obesity, Polish Society of Pediatric Endocrinology and Diabetes, the College of Family Physicians in Poland and Polish Association for Study on Obesity.

Childhood obesity is one of the most important problems of public health. Searching was conducted by using PubMed/MEDLINE, Cochrane Library, Science Direct, MEDLINE, and EBSCO databases, from January 2022 to June 2022, for English language meta-analyses, systematic reviews, randomized clinical trials, and observational studies from all over the world. Five main topics were defined in a consensus join statement of the Polish Society of Pediatrics, Polish Society for Pediatric Obesity, Polish Society of Pediatric Endocrinology and Diabetes and Polish Association for the Study on Obesity: (1) definition, causes, consequences of obesity; (2) treatment of obesity; (3) obesity prevention; (4) the role of primary care in the prevention of obesity; (5) Recommendations for general practitioners, parents, teachers, and regional authorities. The statement outlines the role of diet, physical activity in the prevention and treatment of overweight and obesity, and gives appropriate recommendations for interventions by schools, parents, and primary health care. A multisite approach to weight control in children is recommended, taking into account the age, the severity of obesity, and the presence of obesity-related diseases. Combined interventions consisting of dietary modification, physical activity, behavioral therapy, and education are effective in improving metabolic and anthropometric indices. More actions are needed to strengthen the role of primary care in the effective prevention and treatment of obesity because a comprehensive, multi-component intervention appears to yield the best results.

Diabetic ketoacidosis incidence among children with new-onset type 1 diabetes in Poland and its association with COVID-19 outbreak-Two-year cross-sectional national observation by PolPeDiab Study Group.

BACKGROUND: There are several observations that the onset of coronavirus 19 (COVID-19) pandemic was associated with an increase in the incidence of diabetic ketoacidosis (DKA). However, due to heterogeneity in study designs and country-specific healthcare policies, more national-level evidence is needed to provide generalizable conclusions. OBJECTIVE: To compare the rate of DKA in Polish children diagnosed with type 1 diabetes (T1D) between the first year of COVID-19 pandemic (15 March 2020 to 15 March 2021) and the preceding year (15 March 2019 to 15 March 2020). METHODS: Reference centers in 13 regions (covering ~88% of Polish children) retrospectively reported all new-onset T1D cases in children from assessed periods, including DKA status at admission, administered procedures and outcomes. Secondly, we collected regions' demographic characteristics and the daily-reported number of COVID-19-related deaths in each region. RESULTS: We recorded 3062 cases of new-onset T1D (53.3% boys, mean age 9.5 ± 4.3 years old) of which 1347 (44%) had DKA. Comparing pre- and post-COVID-19 period, we observed a significant increase in the rate of DKA (37.5%-49.4%, p < .0001). The fraction of moderate (+5.4%) and severe (+3.4%) DKA cases increased significantly (p = .0089), and more episodes required assisted ventilation (+2.1%, p = .0337). Two episodes of DKA during 2020/2021 period were fatal. By region, change in DKA frequency correlated with initial COVID-19 death toll (March/April 2020) (R = .6, p = .0287) and change in T1D incidence (R = .7, p = .0080). CONCLUSIONS: The clinical picture of new-onset children T1D in Poland deteriorated over a 2-year period. The observed increase in the frequency of DKA and its severity were significantly associated with the overlapping timing of the COVID-19 epidemic.

Response to Treatment with Recombinant Human Growth Hormone (rhGH) of Short Stature Children Born Too Small for Gestational Age (SGA) in Selected Centres in Poland.

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.

Patient with Phenylketonuria and Intellectual Disability-Problem Not Always Caused Exclusively by Insufficient Metabolic Control (Coexistence of PKU and Alazami Syndrome).

The authors present a case report of a boy with a classical form of phenylketonuria and Alazami syndrome. The inborn error of phenylalanine metabolism was diagnosed in the neonatal period based on population new-born screening. Despite early implementation of a low-phenylalanine diet and good biochemical control, the patient developed behavioural disorders and intellectual disability. He also presented with dysmorphic features. After long and extensive attempts to establish the genetic cause of this unusual phenotype, finally, at the age of 16 the boy was diagnosed with Alazami syndrome based on whole exome sequencing. The authors discussed the problem of neuropsychological disorders in patients with phenylketonuria and described typical clinical symptoms of Alazami syndrome. It was emphasized that the presence of one monogenic disease does not exclude the coexistence of another one.

COVID-19 Pandemic and Patients with Rare Inherited Metabolic Disorders and Rare Autoinflammatory Diseases-Organizational Challenges from the Point of View of Healthcare Providers.

COVID-19 pandemic is an organisational challenge for both healthcare providers and patients. People with rare inherited metabolic disorders (IMD) and rare autoinflammatory diseases (AD) are vulnerable patients whose well-being is deeply connected with regular follow-ups. This study aimed to assess how e one year of coronavirus pandemic has impacted the treatment of patients with IMD and AD in Poland. Surveys were distributed to all healthcare providers that coordinate the treatment of IMD and AD patients. Thirty-two responders (55%) answered the survey. They provide care to 1726 patients with IMD/AD, including 246 patients on dedicated treatment. In 35% of units, the regular appointments were disrupted, primarily because of patient infection. In 18 hospitals, remote visits were implemented, but only 66.6% of patients used this form of consultation. In 14/32 hospitals, administration of the therapy was delayed (median: 17.4 days). Forty-four patients suffered from SARS-COV-2 infection, in majority with mild symptoms. However, four adult patients developed complications, and one died following a SARS-COV-2 infection. Although most hospitals managed to maintain regular visits during the pandemic, more comprehensive implementation of telemedicine and switch to oral therapy or home infusions would be a reasonable solution for the current epidemic situation.

The influence of maternal nutritional behavior on the nutritional behavior of children with excess body weight.

INTRODUCTION: Obesity is a chronic systemic metabolic disease, which is increasingly prevalent also in children. Obesity carries a risk of numerous complications. The factors that cause excessive weight gain in children are improper eating habits and maternal obesity. The role of mothers manifests mainly in influencing the food preferences of their children. Aim of the study: To analyse the relationship between the selected eating habits of mothers and the eating habits of their children with excess body weight before and after dietary intervention. MATERIAL AND METHODS: The study group consisted of 68 overweight and obese children - patients of our department. The study used the author's questionnaire for assessing eating habits. The eating habits were assessed in children and mothers. RESULTS: After dietary intervention reduction in mean BMI-SDS of 0.80 ±0.96 (p < 0.00001) was observed in children. Before dietary education, there was a significant relationship between mothers' correct habits and children's habits of, e.g., eating breakfast, cereal products drinking water, and consuming milk. Despite the dietary intervention, the influence of negative mothers' habits on the habits of their children was still observed. CONCLUSIONS: The influence of selected correct and incorrect mothers' eating habits on shaping the eating habits of their children with excess body weight before and after dietary intervention was demonstrated. Before and after dietary intervention, this concerned, e.g., the number of eaten meals and the frequency of consuming sweets and fast food. No relationship was found between mother and child in the frequency of consumption of vegetables.

Above 40% of Polish children and young adults with type 1 diabetes achieve international HbA1c target - results of a nationwide cross-sectional evaluation of glycemic control: The PolPeDiab HbA1c study.

BACKGROUND: Youth with type 1 diabetes (T1D) (16-18 y.o.) present worst disease control of all age groups and need structured interventions. Those should be based on unbiased, national-scale outcomes, which have not yet been successfully assessed in Poland. OBJECTIVE: To evaluate the glycemic control in young patients with T1D in Poland. METHOD: All pediatric diabetes care centers and the nine largest centers for adults with T1D were invited to this cross-sectional study, conducted in March 2018. Eligibility was defined as age ≤ 30 years and diabetes duration ≥1 year. Blinded samples of capillary blood and clinical questionnaires were sent to coordinating center, where HbA1c was measured by high-pressure liquid chromatography. RESULTS: Nine adult and 25/28 pediatric centers participated, providing data for 1255 patients (50.8% males), mean age 12.3 years (95%CI:12.1-12.6) for children and 23.2 years (22.9-23.6) for adults; mean diabetes duration 7.1 years (6.8-7.3). This covered ~8% of pediatric population and 2% of 18-30-years-olds with T1D. Mean HbA1c was comparable between children and adults (57 mmol/mol [7.4%], 95%CI:56-57 mmol/mol [7.3-7.4%] vs. 57 mmol/mol [7.4%], 95%CI:56-60 mmol/mol [7.3-7.6%], p = 0.1870). Overall, 45.2% of patients achieved ISPAD target (<53 mmol/mol [<7.0%]). During the month preceding the study, 0.9% of patients experienced severe hypoglycemia and 0.4% suffered ketoacidosis. HbA1c was related to the method of insulin therapy, continuous glucose monitoring use and body weight (p < 0.0001). CONCLUSIONS: In Polish children and young adults with T1D glycemic control expressed as HbA1c is promising in the light of ISPAD guidelines. Our results confirm the known associations between better glycemic control and the use of new technologies and maintaining optimal body weight.

Long-term follow up of carbohydrate metabolism and adverse events after termination of Omnitrope® treatment in children born small for gestational age.

BACKGROUND: Recombinant human growth hormone (rhGH) therapy can affect carbohydrate metabolism and lead to impaired glucose tolerance during treatment. In addition, short children born small for gestational age (SGA) are predisposed to metabolic abnormalities. This study assessed the long-term safety of rhGH (Omnitrope®) use in short children born SGA. METHODS: This was a follow-up observational study of patients from a phase IV study. The baseline visit was the final visit of the phase IV study. Further visits were planned after 6 months (F1), 1 year (F2), 5 years (F3), and 10 years (F4). The primary objective was to evaluate the long-term effect of rhGH treatment on the development of diabetes mellitus; secondary objectives included incidence/severity of adverse events (AEs). RESULTS: In total, 130 subjects were enrolled in the follow-up study; 99 completed F1, 88 completed F2, and 13 completed F3 (no subject reached F4). The full analysis set for evaluation comprised 118 patients (64 female). Mean (standard deviation) duration of follow up was 39.6 (24.4) months. No subject was newly diagnosed with diabetes. The results for carbohydrate metabolism parameters were consistent with this finding. A total of 144 AEs were reported in 54 subjects; these were mostly of mild-to-moderate intensity (96.5%) and not suspected to be related to previous rhGH treatment (94.4%). Serious AEs (n = 18) were reported in eight patients; three (in one patient) were suspected as possibly related to previous rhGH treatment (anemia, menorrhagia, oligomenorrhoea). One fatal event occurred (sepsis), which was judged as not related to previous rhGH treatment. CONCLUSIONS: None of the participating subjects, who had all been previously treated with Omnitrope® in a phase IV study, developed diabetes during this follow-up study. In addition, no other unexpected or concerning safety signals were observed.

Newborn Screening for SCID and Other Severe Primary Immunodeficiency in the Polish-German Transborder Area: Experience From the First 14 Months of Collaboration.

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