Integrative morphological, phytochemical, and molecular identification of three invasive and medicinal Reynoutria species.

The three highly invasive Reynoutria species - R. japonica Houtt., Reynoutria sachalinensis (F.

Rubinstein-Taybi Syndrome Clinical Characteristics from the Perspective of Quality of Life and the Impact of the Disease on Family Functioning.

: 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.

Transient severe hypotonic hyponatraemia in children - presentation of three cases.

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).

Nutritional habits according to age and BMI of 6-17-year-old children from the urban municipality in Poland.

Background: Balanced nutrition is crucial for adolescent's proper physical and mental development. Dietary habits change significantly with a child's development. Along with increasing age and the shift towards adolescence, unhealthy diet-related habits become more common.

Pallister-Hall syndrome in a 2-years-old girl.

Introduction: Pallister-Hall syndrome (PHS) is a rare autosomal dominant syndrome characterized by polydactyly, bifid or shortened epiglottis, visceral anomalies, hypothalamic hamartoma often combined with hypopituitarism. PHS is characterized by significant variability in the expression of clinical symptoms. The clinical course ranges from mild with a good prognosis to severe and which can lead to death during the neonatal period.

The assessment of skeletal status in young patients with Turner syndrome by 2 densitometric techniques: Phalangeal quantitative ultrasound and dual energy X-ray absorptiometry.

Background: Studies using dual energy X-ray absorptiometry (DXA) demonstrate a reduction in bone mineral density (BMD) in children and adolescents with Turner syndrome (TS). However, these studies do not take into account changes in bone size, which influence BMD in the case of short-statured patients. Phalangeal quantitative ultrasound (phQUS) measurements have shown an ability to reveal changes due to skeletal growth, aging, and bone and mineral disorders.

LPL gene mutation as the cause of severe hypertriglyceridemia in the course of ketoacidosis in a patient with newly diagnosed type 1 diabetes mellitus.

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.

1H NMR-based metabolomics studies of urine reveal differences between type 1 diabetic patients with high and low HbAc1 values.

The aim of this study was to investigate relation between level of HbAc1 and concentration of metabolites in urine of T1D patients. To test this hypothesis the (1)H NMR (proton nuclear magnetic resonance) target analysis of crucial urine metabolites combined with chemometric approach were applied. Urine samples were collected from 30 children and teenagers aged 4-19 with T1D and 12 healthy children, aged 9, as control group.

[History of diabetology in Lower Silesia].

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.

[Primary prevention of type 1 diabetes. Actual situation and perspectives].

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.

[Progress in diagnostics and therapy of type 1 and type 2 diabetes--part 2].

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.

Panhypopituitary insufficiency in a patient with clinical diagnosis of Chitayat-Hall syndrome.

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.

[The effect of one year therapy with recombinant human growth hormone (rhGH) on growth velocity, calcium-phosphorus metabolism, bone mineral density and changes in body composition in children with growth hormone deficiency (GHD)].

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.

[Value of physical activity for proper bone mass and bone mineral density attaining in children and adolescents].

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.

Progress in the treatment of diabetes type 1 and 2.

In the last years an increased incidence of diabetes was observed in the whole world. It was estimated that in the year 2030 there will be around 300 million patients with diabetes. Diabetes, especially not adequately treated, develops serious chronic complications.

[Is arterial hypertension a significant problem in children and adolescents with type 1 diabetes?].

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.

[Incidentaloma in a 16 years old girl -- 2 year observation].

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.

[Precocious puberty and von Recklinghausen's disease].

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.

[The child from families with type 1 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.

[Salt wasting syndrome caused by congenital, insufficient synthesis or aldosterone function--etiology, diagnosis and management].

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.

[Transplantation in diabetes type 1--current problems and perspectives].

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.