The impact of the d3-growth hormone receptor (d3-GHR) polymorphism on the therapeutic effect of growth hormone replacement in children with idiopathic growth hormone deficiency in Poland.

OBJECTIVES: The human growth hormone receptor (GHR) exon 3 deletion (d3) polymorphism has been reported to be associated with the responsiveness to growth hormone (GH) therapy. This study aimed to: (a) assess the frequency of this polymorphism in a group of Polish children with idiopathic growth hormone deficiency (IGHD) and (b) analyze their response to GH therapy. METHODS: The study group consisted of 67 prepubertal children with IGHD. The control group was composed of 150 Caucasian newborns from whom umbilical cord blood samples were drawn. A genotype analysis was performed using the PCR multiplex technique in search for the existence or deletion of exon 3 of the GHR gene. RESULTS: In the study group the following genotype distribution was observed: fl/fl-GHR 64.2%; fl/d3-GHR 29.9%; d3/d3-GHR 5.9%. The total percentage of patients with d3-GHR polymorphism was 35.8% and 64.2% patients had a fl/fl-GHR. No significant differences were noted in growth rate SD before introducing therapy and growth rate after one year of recombinant human GH therapy in patients with individual genotypes. In the control group the genotype distribution was: fl/fl-GHR 63.3%; fl/d3-GHR 29.9%; d3/d3-GHR 6.8%. CONCLUSION: No differences were observed in genotype distribution between the study and the control group. Patients with IGHD did not differ among each other depending on their genotype (fl/fl-GHR or fl/d3-GHR) in terms of growth velocity before introducing therapy or growth rate after one year of recombinant human GH therapy.

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.

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.

[The "heart-hand" syndrome in a 8-year-old-boy with short stature]. / Zespól "serce-reka" u 8-letniego chlopca z niskorosloscia.

"Heart-hand" syndrome is a broad category of diseases. The most common form is Holt-Oram syndrome (HOS) that occurs in approximately 1:100 000 live births. It is characterized by upper limb defects (carpal bone defects, triphalangeal thumbs, hypoplasia or absence of the thumb and the radial ray) and cardiac septal defects (atrial septal defects or ventricular septal defects). There are three main types of "heart-hand" syndromes. "Heart-hand" syndrome type I--HOS is characterised by atrial septal defect and thumb anomaly, type II (Tabatznik syndrome) by short distal phalanx of the thumb, upper limb abnormalities and cardiac arrhythmias, type III by cardiac conduction diseases and shortening of the middle phalanges. The aim of this report is to present a new case of the "heart-hand" syndrome in the family. This diagnosis was established on the base of clinical examination, radiological findings, and echocardiography. Our patient demonstrates congenital bilateral absence of a radial bone and thumbs, dextrocardia and patent foramen ovale.

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.

Assessment of the metabolic control in children with type 1 diabetes.

INTRODUCTION: The increase in morbidity of type 1 diabetes (T1D) is observed in Poland and worldwide, particularly among the youngest patients. To prevent chronic hyperglycemia's complications, it is advised to maintain best possible metabolic control from the time of diagnosis of the disease. AIM: The purpose of this research is to evaluate adherence to medical recommendations in regard to appropriate metabolic control of T1D in children, based on Polish Diabetes Association (PTD) 2019 criteria. MATERIAL AND METHODS: The medical records of 388 patients with T1D hospitalized in our department between June 2018 and July 2019 were analyzed. Two hundred patients hospitalized for routine control tests were enrolled in the study. The patients were evaluated with respect to meeting the criteria for metabolic control recommended by PTD 2019 including gender, duration of disease and treatment technique. The relation between the percentage of HbA1c and age, duration of the disease and lipid metabolism was studied. RESULTS: In the assessed group 7% of patients met all PTD's criteria of metabolic control. There was a statistically significant difference in percentage of HbA1c in serum between girls and boys (12.64% vs. 26.55%, p = 0.02). The trend was observed between patients with T1D lasting less than or equal 3 years and those with long-standing disease (28.72% vs. 13.21%, p = 0.007). A significant, positive correlation was demonstrated between percentage of HbA1c and low-density lipoprotein (LDL) level (r = 0.244), triglyceride (TG) level (r = 0.234) and duration of the disease (r = 0.278). CONCLUSIONS: A low percentage of patients is able to achieve all aims stated by the PTD.

Papillary thyroid cancer in three children.

INTRODUCTION: Thyroid cancers (TC) are rare diseases in the pediatric population and represents 0.5-3% of all malignant tumors in children. Differenti-ated thyroid cancer (DTC) is a major TC in children. Every patient under 18 years of age diagnosed with a thyroid nodule should under-go a detailed medical examination. The screening test for children with an increased risk for DTC is ultrasound examination of the neck. Both ultrasound and clinical images of a tissue lesion are more important than its size. It should also be emphasized that autoimmune thyroiditis (AIT), a comorbid condition for TC, is increasingly often diagnosed in young patients. Because of the rare incidence of this kind of cancer, we present 3 case studies of patients with papillary thyroid carcinoma, hospitalized in the Department of Pediatrics, En-docrinology, Diabetology, Metabolic Diseases and Cardiology of Developmental Age at Pomeranian Medical University (PMU) in Szczecin.

Assessment pf physical fitness of 8 and 9-year-old children from Szczecin,Poland, involved in the obesity prevention program - pilot study.

INTRODUCTION: Increasing incidence of excess weight and poor physical fitness of children validates the need for preventive actions. The Szczecin municipality (gmina Szczecin) runs the "Odwazna ósemka" ("The Brave Eight") program - Prevention of excess weight and obesity in 8 and 9-year-old children attending elementary school in Szczecin, Poland. AIM: The assessment of physical fitness as well as the prevalence and intensity of excess body weight and blood pressure rates among the 8 and 9-year-old children attending elementary school in Szczecin, Poland. MATERIAL AND METHODS: Between 6th December 2016 and 3rd December 2017, 3407 8 and 9-year-old children were examined (1757 girls and 1650 boys). BMI (Body Mass Index) as well as WHR (Waist Hip Ratio) were calculated. All the children were assessed according to criteria established by the International Obesity Task Force (IOTF). The examination included basic anthropometric measurements, such as: body height and weight, waist and hip circumference, blood pressure, body constitution analysis, and physical fitness assessment. RESULTS: Excess body weight was diagnosed in 822 patients, which is 24.1% of the examined population. 369 patients were diagnosed with elevated blood pressure (10.8%). Very poor physical fitness - test abandoned before the completion (HR>180/min), was diagnosed in 151 children (4.5%), very poor physical fitness was diagnosed in 234 children (7%), poor physical fitness was diagnosed in 827 children (24.9%), sufficient physical fitness was diagnosed in 961 children (29.2%), good physical fitness was diagnosed in 650 children (19.5%), very good physical fitness was diagnose in 428 children (12.8%) and excellent in 70 children (2.1%). CONCLUSION: The fact of unsatisfactory physical fitness and excess body weight in children from Szczecin is unsettling. There is ceratainly a need for preventive measures in the broad sense.

A two year observation of the process of applying recombinant IGF-1 to treat short stature in children with primary IGF-1 deficiency -- case reports of 3 patients.

Growth deficiency is one of the most frequent causes of referral to Endocrinology Outpatient Clinic. IGF-1 (insulin-like growth factor 1) deficiency is one of the rarest causes of short stature. In 2009 in Poland a therapeutic programme was set up for children with severe primary IGF-1 deficiency. The authors present the data of three first polish patients qualified for the rhIGF-1 (recombinant human insulin-like growth factor 1) - mecasermin. The authors conclude that the treatment with rhIGF-1 significantly improves growth velocity in patients with IGF-1 deficiency. During two years of mecasermin treatment no serious side effects were noted.

[Prognostic value of the L-Dopa and clonidine GH stimulation tests in patients with endogenous growth hormone deficiency - retrospective analysis after discontinuation of treatment - own experience]. / Wartosc prognostyczna testu z L-Dopa i klonidyna u pacjentów z endogennym niedoborem hormonu wzrostu oceniana retrospektywnie po zakonczeniu leczenia - obserwacje wlasne.

INTRODUCTION: Assessment of growth hormone (GH) deficiency in short children is still limited with complicated and heterogeneous scheme of the diagnostic tests. THE AIM OF THE STUDY: was to estimate a prognostic importance of the GH stimulation tests (L-Dopa and clonidine) in patients with severe (sGHD) and partial growth hormone deficiency (pGHD). The results of growth hormone treatment (rhGH) were analyzed in the both groups. MATERIAL AND METHODS: The study group consists of 41 children, which used to be treated with rhGH. An insulin test was performed and according to the results two subgroups were distinguished: sGHD - n=11 and pGHD - n=30. RESULTS: Assessment of the growth velocity (GV) in the first year of therapy in the whole study group was 9.0+/-2.6 cm/years (GVSD=4.5+/-4.0). The final height (FH) in the whole group amounted to htSD=-1.2+/-1.1. In the whole group a statistically important negative correlation was found between max GH peakin the insulin test and GV during the first year of treatment (r=-0.32 p=0.039) and between maxGH peak in the insulin test and final height standard deviation score (r=-0.36; p=0.02). A significant positive correlation was detected between max GH peak in the insulin test and max GH peak in the L-Dopa test (r=0.35; p=0.03). No analogical correlation was observed in the clonidine test. A statistically important negative correlation was found between max GH peak in the L-Dopa test and patient's final height (r=-0.41; p=0.011). The final height was positively correlated with GV in the first year of treatment (r=0.42; p=0.005). CONCLUSIONS: L-Dopa test provides better results in determining GH pituitary reserve than the clonidine test. Patients with sGHD responded better to treatment with rhGH and their final height corresponds more closely to the population norm. A prognostic factor connected with the final results of treatment is also the rate of GV in the first year of treatment.

[An abdominal inflammatory pseudotumor in a 9-year-old girl with newly diagnosed diabetes mellitus type 1--a case report]. / Guz zapalny jamy brzusznej u 9-letniej pacjentki ze swiezo ujawniona cukrzyca typu 1--opis przypadku.

An inflammatory tumor is a rare, benign pathology with a variable natural course. The hypotheses of the etiology of the inflammatory tumor are associated with trauma, infections or the immune mechanisms. To our knowledge, in the literature are described some single cases of solid omental and peritoneal masses as an uncommon cause of abdominal lump in children. We describe a case of a 9-year-old girl with clinical symptoms at onset of type 1 diabetes and accidentally diagnosed omental and peritoneal tumor.

[Clinical similarity and diagnostic difficulties in differentiation of diabetes mellitus type 1 and type 2 in adolescence - case report]. / Podobienstwo kliniczne i trudnosci diagnostyczne w róznicowaniu cukrzycy typu 1 i typu 2 w wieku mlodzienczym - opis przypadków.

UNLABELLED: The authors would like to present the difficulties in differentiation of diabetes mellitus type 1 and type 2 in adolescence on the basis of two 17 years-old patients. In both patients' cases the following symptoms: polydipsia, polyuria and weight loss with hyperglycemia and glycosuria have been observed for a few months. During laboratory studies some additional abnormalities were observed: elevated HbA1c, dyslipidemia and high level of liver enzymes. Normal level of insulin as well as C-peptide lack of ketonuria and negative parameters of autoimmunologic reaction the supported diagnosis of diabetes mellitus type 2. Due to insulin therapy and metformin a correct level of glycemia was achieved. CONCLUSION: Decompensated diabetes mellitus type 2 in adolescents may be difficult to differentiate with type 1.