Effect of Recombinant Human Growth Hormone Treatment in a Patient with Short Stature Associated with the Ring Chromosome 17 Syndrome.

Background: Ring chromosome 17 syndrome is a rare hereditary disorder whose prevalence is less than 1 : 1.000.000.

Non-balanced translocation between the short arms of chromosomes 8 and 6 associated with type 1 diabetes mellitus.

Summary: We describe a rare case of a girl with an initial diagnostic hypothesis of chromosome 8 trisomy based on clinical findings and karyotyping, which identified a structural change in the short arm of chromosome 8 (46,XX,add(8)(p23)). At the age of 7, she developed type 1 diabetes mellitus and started insulin therapy with multiple daily doses, and then she started to use a continuous insulin infusion system (pump) at 10 years of age. At the age of 12, she underwent a molecular study that identified an unbalanced translocation between the short arms of chromosomes 6 and 8 - 46,XX,add(8)(p23).

Evaluation of sleep characteristics of children and adolescents with type 1 diabetes mellitus.

Objective: To evaluate sleep characteristics of children and adolescents with type 1 diabetes mellitus (T1DM) and their relationship with glycemic control.

Methods: A cross-sectional study was conducted at a public hospital in São Paulo, Brazil. It included 86 patients with T1DM, aged between 10 and 18 years old, who were on insulin therapy, had performed at least three measurements of capillary blood glucose throughout the day, and had normal thyroid function.

Characteristics of type 1 diabetes mellitus in children and adolescents with Down's syndrome in an admixed population.

Objective: People with Down's syndrome (DS) have a higher risk of developing type 1 diabetes mellitus (T1D) and may have specific clinical features compared to T1D patients without DS. This study evaluated the clinical and laboratory aspects of T1D in children and adolescents with DS in an admixed population.

Methods: A case-control study comparing patients with T1D and DS (T1D+DS) to patients with T1D without DS (T1D controls) from two tertiary academic Hospitals in São Paulo, Brazil.