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Background/Objectives: Rubinstein–Taybi Syndrome (RSTS-OMIM, #180849) is a rare genetic disorder associated with distinctive clinical features, including a typical craniofacial appearance, global developmental delay, intellectual disability and broad, angular thumbs and fingers. The main aim of the study was to evaluate the health problems of children with RTST, their quality of life and the impact of the disease on family functioning. In addition, we investigate whether comorbidities, autistic behavior and eating problems affect the children's overall QOL. Methods: A cross-sectional study was performed, including a total of 13 caregivers of children diagnosed with RSTS. A self-reported questionnaire [SRQ], medical records and the Pediatric Impact Module PedsQLTM 2.0, the Pediatric Quality of Life PedsQLTM 4.0 were used to obtain data on QOL and the impact of the disease on family functioning. Results: The overall QOL score for children with RSTS was x = 52.40; SD 13.01. The highest QOL was in emotional functioning (EF; x = 59.23; SD 18.69), while the lowest QOL was in physical functioning (PF; x = 48.56; SD 16.32) and social functioning (SF; x = 48.85; SD 18.84). There was a statistically significant negative correlation (p < 0.03; r = −2.01) between the age of the child and their QOL, indicating that older children had lower QOL scores. The mean overall rating for the impact of RSTS on family functioning was x = 50.00; SD 10.91. Caregivers reported the highest scores for cognitive functioning (CF; x = 64.23; SD 23.70) and family relationships (FR; x = 60.00; SD 17.17). The lowest scores were for daily activities (DA; x = 41.03; SD 17.17) and worry (W; x = 37.69; SD 18.55). Conclusions: This study provides the first comprehensive exploration of the QOL of children with RSTS) and its impact on family functioning. [ABSTRACT FROM AUTHOR]

Copyright of Pediatric Endocrinology, Diabetes & Metabolism is the property of Termedia Publishing House and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Pediatric Endocrinology, Diabetes & Metabolism is the property of Termedia Publishing House and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Pediatric Endocrinology, Diabetes & Metabolism is the property of Termedia Publishing House and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Pediatric Endocrinology, Diabetes & Metabolism is the property of Termedia Publishing House and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Pediatric Endocrinology, Diabetes & Metabolism is the property of Termedia Publishing House and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Pediatric Endocrinology, Diabetes & Metabolism is the property of Termedia Publishing House and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Pediatric Endocrinology, Diabetes & Metabolism is the property of Termedia Publishing House and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Highlights: [•] T1D children were divided according to their level of glycated hemoglobin (HbA1c): below (L-T1D) and above 6.5% (H-T1D). [•] The 1H NMR studies of urine samples including control group were performed together with multivariate and statistical data analysis. [•] The OPLS-DA analysis showed separation between all investigated groups. [•] NMR spectroscopy combined with advance statistical methods can be used as a supporting tool to HbAc1 measurements in T1D diagnosis. [Copyright &y& Elsevier]

Hyponatraemia, defined as sodium concentration below 135 mmol/l, is one of the most common electrolyte imbalances. Differential diagnosis of hyponatraemia is difficult. We describe 3 cases of children with transient, severe hyponatraemia (< 125 mmol/l). While diagnosing hyponatraemia, it is of major importance to carefully ask in the anamnesis about habits related to the amount of fluid intake and the type of consumed fluids. It should also be noted that a frequent procedure during an infection is to increase fluid ingesting as a prevention of dehydration. One, however, should remember about the possibility of inducing water poisoning in a patient consuming excessive amounts of hypotonic fluids, especially when exposed to non-osmotic antidiuretic hormone stimulus, such as an acute infection or stress, and/or reduced renal excretory capacity. Only the presence of polyuria does not justify a diagnosis of arginine vasopressin deficiency (AVP-D), and especially the implementation of desmopressin treatment before all diagnostic procedures are completed, specifically in the case of hyponatraemia. Desmopressin can be used simultaneously with intravenous 3% saline solution only in the treatment of a very severe hyponatraemia, to avoid overcorrection of natraemia. In patients after profound hyponatraemia, polyuria can be observed after normalisation of fluid intake, but it is temporary.

Introduction: Severe hypertriglyceridemia is a condition associated with extremely high triglycerides (TG) plasma concentrations exceeding 1000mg/dl. This condition may result in mutations in genes encoding lipoprotein lipase (LPL), apolipoprotein C2 (APOC2) and apolipoprotein A5 (APOA5) characterized by an autosomal recessive inheritance pattern., Aim: A case report of a patient in which clinical picture of type 1 diabetes mellitus (T1DM) was accompanied by diabetic ketoacidosis (DKA) and severe hypertriglyceridemia., Case Report: A 2.5-year-old boy was admitted to the hospital with ketoacidosis (pH - 7.0, BE - 20mmol/l, HCO3 10mmol/l), glucose level of 850mg%, hyponatremia (Na 100mmol/l) and hyperlipidemia (TG 13493 mg/dl, TC 734 mg/dl). The administered treatment resulted in nearly normal glycemic values and lipid disturbances normalization. This child was diagnosed with a heterozygous mutation of the LPL gene. Currently with an intensive insulin therapy and correct metabolic control of type 1 diabetes mellitus (T1DM), this patient maintains a normal lipid profile., Conclusion: In patient with T1DM the diagnosis of severe hypertriglyceridemia in the course of ketoacidosis should be based on careful interpretation of laboratory tests results. Moreover genetic tests of the patient and his/her immediate relatives blood samples should be performed., (© Polish Society for Pediatric Endocrinology and Diabetology.)

The authors presented a review of the actual literature of primary prevention of type 1 diabetes. They stressed a dramatic increase of patients with newly diagnosed diabetes, which was called an epidemic of the XXI century. According to the recently published data, the increase of newly diagnosed cases was more rapid/faster than it was expected/anticipated, and the dramatic increase in the occurrence/prevalence of type 1 diabetes was observed particularly in children up to 5 years of age. Therefore, like it was mentioned by the authors of recently published reports, the necessity of an effective primary prevention of type 1 diabetes also increased. Many clinical trials of primary prevention of type 1 diabetes, in different clinical stages/phases, are currently being conducted. Scientific investigations about an effective primary prevention are now very important, seen as priority problems. Investigations in Poland, which started in the year 2002 and the end of them was established for the year 2017, are also performed as part of an international scientific program. The identification of subjects with a genetic risk of type 1 diabetes is now possible. Very interesting data of a therapy with t-regulatory cells (tregs), especially those received from the umbilical cord blood of newborns are worth emphasizing.

The authors presented the history of diabetology in the time before and after the 2nd world war, the outstanding diabetological scientists f.e. professor Minkowski, Stolte, Lublin. Further presented was the actual situation and development of the diabetology in Lower Silesia.

We report an 8-year-old proband with severe motor and intellectual disability presenting a variety of dysmorphic features such as microcephaly, prominent glabella (ridged metopic suture) and congenital distal limb contractures. As well as panhypopituitary insufficiency, brain defects, e.g. agenesis of corpus callosum, colpocephaly, and pachygyria as well as strabismus and tracheo-laryngeal hypoplasia, were diagnosed. Genetic examination revealed a normal karyotype and excluded Wolf-Hirschhorn syndrome and subtelomeric deletions. Chitayat-Hall syndrome was diagnosed based on clinical traits.

The report is the second part of a former publication. The authors presented a series of reports, especially from the last year, concerned with diagnostics and therapy of type 1 and type 2 diabetes. The progress of the diagnostics included especially new, more perfect glycaemic monitoring systems. The progress and future of the therapy with personal insulin pumps and different international recommendations for the therapy of type 1 diabetes with short-acting insulin analogues were presented. Also, the problem of the reports about the increased risk of cancer after the treatment with a long-acting insulin analogue glargine was discussed (Lantus). Further investigations of the effect of the therapy with a biphasic insulin and new possibilities of oral therapy in type 2 diabetes were mentioned. It was stressed that actually, a lot of proposals of new drugs and new reports are observed. These reports are, however, frequently conference news and not complete reports and the proposals require further examinations and observations for a confirmed appreciation of their efficacy and safety.

Introduction: The most significant effect of growth hormone treatment is growth promotion. For adults the metabolic effect is the most important. This treatment has an influence on the forming of correct composition of body mass, on metabolism of osseous tissue and bone mineral density., Aim of the Study: Comparison between the rate of growth and estimation of calcium-phosphorus metabolism, bone mineral density and change of body composition in children with growth hormone deficiency during the first year of growth hormone treatment., Material and Methods: The treatment included 120 children and adolescents (85 boys and 35 girls) in age from 6 to 21.5 years old (the average age: 14.2+/-3.0) who were treated in Dept. of Endocrinology and Diabetology for Children and Adolescents during the years 2002-2006 as a result of growth hormone deficiency. Children suffering from panhypopituitarism and other diseases were excluded from the research. The following parameters were included in the analysis: age and sex, age at the start of treatment, the degree of growth hormone deficiency, concentration of calcium, magnesium and phosphates in blood serum, mineral density of bones (BMD), the concentration of osseous minerals, concentration of adipose tissue and lean body mass. All the children were treated with recombined human growth hormone (rhGH) in dose of 0.7 j/kg per week. No interruption of the treatment was noticed., Results: Partial growth hormone deficiency (GHD) was diagnosed in the group of 71 children (52 boys and 19 girls), total GHD diagnosed in 49 cases (34 boys and 15 girls). Average age at the start of treatment was 11.7+/-2.9 years. During the first year of treatment the rate of growing increases from 3.9+/-1,1 cm per year before treatment to 8.72+/-2.27 cm per year (p<0.01) for the whole examined group, for girls from 3.8+/-1.2 cm per year to 8.77 cm per year (p<0.01), for boys from 3.2+/-1.3 per year to 8.58+/-2.20 cm per year (p<0.01). Average concentrations of calcium, magnesium and alkaline phosphatase (ALP) in blood serum remain in accordance with laboratory standards and were statistically not significant. In the majority of patients LBM increased significantly from 28 689+/-4423 g to 35 549.09+/-2968 g (p<0,05) and FM decreased from 21 070+/-4019,8 g (33,15+/-7,6%) to 19 075.37+/-4307,3 g (26.15+/-8.6%) (p<0.05). The alternations of the body composition in GH deficient children treated with rhGH occurred during the first year of therapy.

Physical activity is an important factor for healthy life of the humans. Its significance regards mostly the developmental age, when natural mobility of the youth prones to the proper growing of the skeleton and is important in the prevention and therapy of many diseases. The advantageous effect of regular physical activity and different sport disciplines on bone mass and density is described. In the young age, puberty is an ideal moment for attaining the maximal bone mass and density gain due to physical exercising. The possible harmful effect of exaggerated physical activity has been shown. It is connected with hormonal disorders - secondary amenorrhea, delay of menarche, increased injuries and BMD loss together with significant body mass reduction.

Von Recklinghausen's disease belongs to a group of neurocutaneous syndromes and is characterised by skin, nerve and bone abnormalities. We present a case of von Recklinghausen's disease and precocious puberty in 7-year-old boy. At the age of three café au lait spots on the skin and an incranial tumour situated near the optic chiasm--qualified as inoperable--were discovered. At the age of 7 first signs of precocious puberty appeared (pubic hair P3 and enlargement of the testes (15 ml) and penis). Laboratory measurements included: LH 7.5 mIU/ml, FSH 1.1 mIU/ml, testosterone 183 ng/ml, assessment of bone age: 9 years. The response to LHRH stimulation was characteristic for true precocious puberty (LH 15.9 mIU/ml and FSH 1.5 mIU/ml after 30 minutes). The MRI of the brain showed a tumour of the suprasellar region with compression of pituitary stalk. True precocious puberty was diagnosed. Treatment with Diphereline was introduced. At present the boy is 9 years old and has been treated with Diphereline for 16 months. The volume of the testicles has decreased to 7 ml and loss of pubic hair was noted. The MRI does not show any progression in tumour growth. The authors would like to underline the need of close observation of children with von Reclinghausen disease with regard to possibility of uncovering true precocious puberty which is critical for rapid diagnosis and introduction of correct treatment.

Adenomas of the hypophysis are tumors of the CNS which are on the third place in the frequency of appearance, which cause disturbances of hypophyseal function. In children incidentaloma is seldom observed. The authors present a 16-year-old girl who was admitted to the clinic because of amenorrhoea and an increased growth velocity during the last year. The MRI examination of the hypophysis proved a hypophyseal adenoma. Hormonal laboratory examinations do not show any hormonal activity of the observation. The girl's case is presented because the diagnosis of an incidentaloma is exceptionally rare in this age group.

In the last two decades the problem of arterial hypertension in patients in the developmental age gained an increasing interest. The frequency of arterial hypertension in children was estimated at the level of 1-5% of the population. It was demonstrated that hypertension is observed in patients with type 1 diabetes over two-three times more frequently than in the general population. Arterial hypertension is a significant risk factor for cardio-vascular complications. The coexistence of diabetes type 1 and arterial hypertension predisposes to ischemic heart disease, stroke and premature death. Normal range of arterial tension for children was established during the Task Force on Blood Pressure Control study in children. Models depending on age and sex were created. Measurements above the 95 percentile for age and sex were referred to as significant hypertension and above the 97 percentile as heavy hypertension. For the development of arterial hypertension in patients with type 1 diabetes, which is the dominant type in children and adolescents, apart from the genetic predisposition, the coexistence of nephropathy is important. In children and adolescents almost exclusively secondary nephrogenic hypertension is observed, which develops usually 2 years after microproteinuria. Seldom in children and adolescents with type 1 diabetes essential hypertension or hypertension of other causes, as for example contraction of the nephrotic artery, may be observed. A particular form of arterial hypertension is lack of pressure decrease during the night, with a maintenance of the normal rhythm during the day. Recently the state called "pre-hypertension", considered as a precursor of hypertension and a predictor of excessive cardiovascular risk, has gained increasing interest. The pharmacological therapy of arterial hypertension in patients with diabetes type 1 may be taylored individually, depending on the degree and form of diabetes, and also on its late complications. In case of an unfavourable course dialysis may be considered and transplantation of the kidney, as hemodialysis in children with type 1 diabetes is connected with frequent complications. It is crucial to consider the transplantation of the kidney at early stages, when the creatinine level is above 5 mg/dl. It has been proved that the results of transplantation in patients with diabetes are similar to those in patients without diabetes.

Diabetes type 1 is observed in individuals with a genetic predisposition to the disease. Observed is a 3-5 fold risk for congenital defects, therefore diabetes type 1 is one of the highest known teratogenic risk factor. The main factor responsible for the development of congenital defects is hyperglycemia. Observed are congenital defects of the central nervous system, the bones, urinary and digestive tract. Characteristic is macrosomia. Observed are hypocalcemia, hypomagnesemia, polycythemia, hyperbilirubinemia, hypertrophic cardiomyopathy, respiratory disturbances. Children from families with diabetes type 1 are at high risk for the development of the disease in the newborn period, additional diseases. They must be in permanent medical control.

Salt wasting syndrome is caused by a congenital or acquired synthesis disorder or by the aldosterone function disorder. It manifests itself by ionic disorders where the sodium and chlorine level decrease with the simultaneous potassium retention. Synthesised aldosterone is in the glomerular zone of the adrenal cortex. Symptoms of dyselectrolitemia are not distinctive, they develop within a few first days of life. The suction aversion, apathy, lack of growth or progressing, body mass loss is being noticed. The most often cause of salt wasting syndrome is the congenital cortical adrenal hyperplasia (CAH) caused by 21-hydroxylase enzyme deficit. The classic form with and without salt wasting (SW), as well as non-classic form is distinguished. The therapy of SW form depends on Hydrocortisone and Cortineff administering. The other forms of salt wasting syndrome occur not so often and these are: aldosterone synthesis deficit, dehydrogenase 3beta-hydroxysteroid deficit, lipoid cortical hyperplasia, adrenal hypoplasia congenital (AHC), adrenoleukodystrophy and pseudohypoaldosteronism. The knowledge of the symptoms and causes of salt wasting syndrome allows for the proper therapeutic management and contributes to the regular psychophysical infantile development of the children.

Diabetes type 1 is, as we know, a chronic progressive disease, which requires a substitutional therapy with insulin for the whole life. The cause is a definite destruction of the pancreatic beta cells. For many years there have been intensive investigations on the possibility to obtain a complete, persistent withdrawal of the symptoms. Substitution of the destroyed, not active cells, could take place after transplantation of the whole pancreas, transplantation of pancreatic islets or transplantation of stem cells. This is now the only method which may cause an independence from exogenous insulin, persistent normoglycemia, normal HbA1c level, without risk of hypoglycemia. Pancreas and islets transplantations, however, are connected till now with the necessity of an immunosuppressive therapy for the whole life, with the toxicity of the drugs, incidence of frequent infections and malignancy. Pancreas transplantation is a serious surgical intervention, connected with numerous risks and complications, considerably less risk appears in islet cell transplantations. Since 2000 exclusively islet cell transplantations have been performed. One of the leading centers is Edmonton, where professor Shapiro prepared the so called. Edmonton protocol which is characterized by using corticosteroid-free immunosuppressive drugs, islet cells from two or more donors, repeated till the attainment of insulin dependence. A problem now is that the islets are obtained from cadavers. Therefore intensive research is conducted for alternative sources of beta cells. At this moment it is mostly preferred for receiving a sufficient number of insulin producing cells to develop stem cells with a subsequent differentiation to insulin producing cells. The mentioned cells have an unlimited ability of reproduction, in this case also immunosuppressive therapy is not necessary. Alternative sources of beta cells are cells achieved on the genetic engineering, embryonic or adult somatic stem cells. It is however important to stress, that adult stem cells as insulin producing cells are not unequivocally identified. For obtaining better, permanent results after transplantation the following are important: optimalization of "islands growth" in the liver, prevention of the early inflammations, further development of highly selective, well tolerated, corticosteroid-free immunosuppressive drugs, identification of rejecting markers, induction of immunotolerance, micro- and macro-capsulation of the islets to protect the recipient against the immunological attack. Several multicenter studies in important scientific centers are opened, there is also Juvenile Research Foundation International. In spite of a permanent progress there are still many important problems to solve. It is necessary to institute further multicenter, international research to ascertain the effect of transplantation concerning the normalisation of glycemia, prevention or inhibition of the progress of diabetic complications and to prolong the life span in patients with type 1 diabetes after transplantation.