Dysgerminoma with a Somatic Exon 17 Mutation and SHH Pathway Activation in a Girl with Turner Syndrome.

This article reports a case of a 7-year-old girl with Turner syndrome, treated with growth hormone (GH), who developed ovarian dysgerminoma. The patient karyotype was mosaic for chromosome Xq deletion: 46,X,del(X)(q22)/45,X. No Y chromosome sequences were present.

Monitoring the Effects of Hypolipidemic Treatment in Children with Familial Hypercholesterolemia in Poland.

Familial hypercholesterolemia (FH) is the most common monogenic autosomal dominant disorder. FH results in an increased cardiovascular mortality rate. However, cardiovascular risk control factors enable the avoidance of approximately 80% of strokes and cardiovascular diseases.

Transition from Childhood to Adulthood in Patients with Duchenne Muscular Dystrophy.

Recently, progress has been observed in the knowledge about Duchenne Muscular Dystrophy (DMD), which is a severe and commonly diagnosed genetic myopathy in childhood, historically resulting in early death. Currently, there are a lot of methods available to improve the clinical course of DMD and extend patients' life expectancy to more than 30 years of age. The key issue for DMD patients is the period between 16-18 years of age, which is described as a transition from pediatric- to adult-oriented healthcare.

Papillary thyroid carcinoma in a patient with Turner syndrome treated with human growth hormone.

Thyroid cancer is a rare pathology in childhood and adolescence, being responsible for 1.5-3% of all carcinomas in this age group. Differentiated thyroid carcinoma is the most commonly found variant, especially papillary carcinoma of the thyroid (PCT).

When do paediatric patients with familial hypercholesterolemia need statin therapy?

Introduction: Familial hypercholesterolemia (FH) is one of the most common autosomal dominant disorders. It is characterized by elevated LDL cholesterol levels occurring already by early childhood. Awareness of health risks in FH patients should incite health professionals to actively seek and treat children with lipid disorders to reduce their risk of myocardial infarction and stroke.

[Treatment with statins in children with familial hypercholesterolemia].

Children with familial hypercholesterolemia have very high total cholesterol and LDL-cholesterol levels in blood which may result in endothelial dysfunction and increase in carotid intima-media thickness. When untreated in childhood, familial hypercholesterolemia is associated with a premature atherosclerotic cardiovascular disease in adulthood. According to the results of clinical studies in children with familial hypercholesterolemia conducted in the last two decades, as well as statements of American Heart Association (AHA), American Academy of Pediatrics (AAP) and Polish Statement called Stanowisko Ekspertów Lipidowych, the recommendations of treatment were published.

Management of familial hypercholesterolemia in children and adolescents. Position paper of the Polish Lipid Expert Forum.

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.

[The usage of the personal insulin pump for treatment of a 7 week infant with neonatal diabetes mellitus].

Unlabelled: Etiology and the course of diabetes mellitus type 1 diagnosed in infancy remains the subject of intensive investigations, nonetheless the diagnosis of hyperglycemia in this period obliges prompt start of the insulin therapy. The treatment of newborns and infants is challenging because of the necessity to use very low doses of insulin.

Case Report: A boy was transferred from the neonatal ward on the 8th day of life with the diagnosis of diabetes mellitus.

[Prognostic factors of celiac disease occurrence in type 1 diabetes mellitus children].

Introduction: Discussion on the frequency of coexistent celiac disease and type 1 diabetes mellitus (DM1) as well as an attempt to standardize diagnostic methods of celiac disease detection among DM1 children have been performed.

Objectives: To assess the incidence of celiac disease among DM1 children in the Pomeranian region of Poland followed by analysis of the putative prognostic factors for celiac disease development in this particular group of children.

Materials And Methods: 70 children aged 9.

[Sudden cardiac death in children].

Natural, sudden deaths in children are the cause of about 5% of all deaths. The most frequent cause appears to be pathology of the cardiovascular system. Direct cause of death are arrhythmias or, rarely, haemodynamic disturbance coexisting with decrease in minute cardiac output.