Dysgerminoma with a Somatic Exon 17 KIT 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. Molecular studies revealed the presence of a driving mutation in exon 17 of the KIT gene in the neoplastic tissue, as well as Sonic-hedgehog (SHH) pathway activation at the protein level. The patient responded well to chemotherapy and remained in complete remission. This is the first case of dysgerminoma in a Turner syndrome patient with such oncogenic pathway.

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. Adolescents and adults with DMD have highly complex healthcare needs associated with long-term steroid usage, orthopedic, ventilation, cardiac, and gastrointestinal problems. The current paper provides a comprehensive overview of special healthcare needs related to the transfer of a patient with DMD from child-oriented to adult-oriented care. Additionally, the need to organize effective care for adults with DMD is presented.

[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). Currently available data support the hypothesis that growth hormone (GH) as well as insulin-like growth factor 1 (IGF-1) can facilitate carcinogenesis. There is a confirmed role of the GH/IGF-1 axis in cancer progression as an initiator of tumorigenesis and neoplastic transformation, metastasis, and resistance to chemotherapy and radiotherapy. Presently, application of recombinant GH is an acceptable method to treat female patients with growth failure during the course of Turner syndrome (TS). This article reports the case of a fourteen-year-old female patient with Turner syndrome, Hashimoto thyroiditis, and papillary thyroid carcinoma diagnosed during GH treatment. The immunochemical analysis of tumour tissue in our patient revealed intensive brown reaction that labelled expression of the IGF-1R vs. traced reaction or its lack in normal thyroid tissue. A significant role is played by IGF-1 in the pathogenesis of invasion of thyroid cancer; however, this effect is complex, and how it works is not well established.

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. OBJECTIVE: The aim of the study was to evaluate the suitability of taking into account the following parameters: ApoB/ApoA index, IMT and e-tracking examination, when initiating statin therapy in FH patients. Materials and methods The study included 57 male and female patients aged 9.57±3.2 years (ranging from 1 year to 17 years), diagnosed with familial hypercholesterolemia confirmed by molecular testing. All the participants had their lipid profile, ApoA and ApoB levels determined. Carotid intima-media thickness (IMT) was measured by carotid ultrasound and arterial stiffness was assessed by e-tracking. The dietary treatment efficacy was monitored in 40 patients and the 12-month combination treatment efficacy in 27 patients. The study was conducted prospectively and retrospectively. Statistical analysis was performed with the EPIINFO Ver. 7.1.1.14 statistical software package. RESULTS: Patients with familial hypercholesterolemia had high mean levels of total cholesterol and LDL cholesterol (287±67 mg/dL and 213±73 mg/dL respectively). 34.37% of the study subjects had a markedly increased ApoB/ApoA index. On IMT or e-tracking examination all the subjects (100%) had vascular abnormalities. After 6 months of a low-cholesterol diet, the mean total and LDL cholesterol levels in the serum had been reduced by 7.2% and 6.2%, respectively. Statins in an average dose of 10.42±2.49 mg daily were prescribed to 36 patients. After one year of the statin therapy, the average serum total and LDL cholesterol levels were 203.5±34.8 mg/dL and 139.1±32.1 mg/dL, respectively, and were still above the target values. Moreover, side effects of the statin therapy were monitored. An increase in AST levels seen in the study group was not statistically significant. The mean creatine kinase level was within the range of normal. Moreover, in our study material we estimated the risk of cardiovascular events in relation to the ApoB/ApoA index. Higher cardiovascular risk was found in 34.37% participants. CONCLUSIONS: Increased risk of cardiovascular events based on ApoB/ApoA index and carotid e-tracking or IMT examination in paediatric patients with FH is an indication for statin therapy initiation.

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. Atherosclerosis develops beginning in childhood in patients with FH and reaches advanced stages before clinical manifestations develop. Inadequate diagnostics and treatment of FH in Polish children suggests a need for raising the level of awareness and understanding of the condition in both society and among health professionals. These recommendations present the current epidemiological status, guidelines for diagnosing FH in Polish children and adolescents, and effective treatment options.

[Prognostic factors of celiac disease occurrence in type 1 diabetes mellitus children]. / Czynniki prognostyczne choroby trzewnej u dzieci z cukrzyca typu 1.

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 9.47+/-4.59 (group 1) de novo diagnosed with DM1 and 223 children aged 10.20+/-3.87 with long-standing diabetes mellitus type 1 (4.47+/-3.16 years from the diagnosis) were enrolled in the study. All the patients had C-peptide, HbA1c, CRP, TSH, fT4, fT3, urinary albumin secretion rate, IgA, level of antigliadin antibodies (AGA), anti-tissue transglutaminase (TGA) IgA and IgG antibodies (ELISA), anti-endomysium (EmA) IgA and IgG antibodies (immunofluorescence) and anti-tyreoglobulin antibodies (TG), anti-thyroid peroxidase (TPO) antibodies (ELISA) evaluated. All the patients had jejunal biopsy and thyroid ultrasound examination. RESULTS: 5.7% of group 1 patients were diagnosed with celiac disease based on the positive jejunal biopsy in comparison with 9.4% in the group 2. TGA antibodies were present in 9.52% of group 2, AGA in 7.62%, EmA in 6.19%. 10% of group 1 children had autoimmune thyroiditis versus 24.2% of group 2 children. The group of children with coincident long-lasting DM1 and celiac disease (group A) was characterized by significantly earlier age at diagnosis (p=0.003), higher HbA(1)c (p=<0.001), CRP (p<0.001) and elevated urine albumin secretion in relation to children without celiac disease and autoimmune thyroiditis (group B). Serologic test detecting TGA antibodies was found to be the most sensitive (95.2%) for the detection of celiac disease among DM1 children, while the lowest sensitivity was obtained in the case of the EmA antibody test (61.9%). CONCLUSIONS: The celiac disease morbidity confirmed by jejunal biopsy is high among DM1 children (9.4%). The assessment of the serum TGA appears to be the most sensitive screening marker for the celiac disease detection in DM1 children.