Is epicardial fat tissue a marker of metabolic syndrome in obese children?

Objective: The goal of the study was to assess the association between epicardial fat (EF) thickness and waist circumference, insulin resistance and other metabolic syndrome components in obese children.

Methods: 52 obese children (23 males and 29 females) in the mean age 11.6 + or - 2.

Familial glucocorticoid deficiency type 1 due to a novel compound heterozygous MC2R mutation.

Objective: Description of the clinical, biochemical and genetic features of a Polish patient with familial glucocorticoid deficiency.

Methods: Detailed clinical investigation, hormonal analysis and sequencing of the coding region of the melanocortin 2 receptor (MC2R) gene in this patient.

Results: We report on a 3-month-old boy with familial glucocorticoid deficiency who presented at the age of 3 months with skin hyperpigmentation, muscle weakness, mild jaundice and constipation.

[Familial glucocorticoid deficiency].

Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder, in 40% of patients caused by mutation in the ACTH receptor gene. In the remaining affected persons most probably mutation refers to regulatory region of ACTH receptor or other factors responsible for differentiation of the adrenal cortex. FGD is characterized by elevated ACTH and low serum morning cortisol level that does not respond to exogenous ACTH stimulation.

[Evaluation of systolic and diastolic function of the left ventricle in children with acute lymphoblastic leukaemia before treatment].

Between 1995 and 2001 echo-cardiography was performed in 244 children (128 boys, 116 girls) with acute lymphoblastic leukaemia (ALL) before the beginning of therapy with anthracyclines (medium 5.4 days after the diagnosis). The mean age at diagnosis was 5.

[Asphyxiating thoracic dysplasia (Jeune's Syndrome) in 15-years-old boy--6 years of observation].

Asphyxiating thoracic dysplasia (Jeune's Syndrome) is a genetically determined dysplasia of thoracic bones usually leading to death during intrauterine life or in early childhood. Other osseous dysplasias as well as renal, hepatic and pancreatic failure may coexist with Jeune's syndrome. About one hundred cases of the syndrome were reported till now.

[Echocardiographic assessment of circulation system in patients during and 3-5 years after all therapy in childhood].

Circulatory disturbances may occur during and after the treatment of acute lymphoblastic leukemia (ALL). The reasons are: leukemic infiltrations of the heart, anaemia, renal disturbances, infections, cardiotoxic drugs, especially anthracyclines (Atc). The aim of the study was echocardiographic assessment of circulatory system in patients during and 3-5 years after ALL therapy in childhood.