Systematic genetic testing for recessively inherited monogenic diabetes: a cross-sectional study in paediatric diabetes clinics.

Aims/hypothesis: Current clinical guidelines for childhood-onset monogenic diabetes outside infancy are mainly focused on identifying and testing for dominantly inherited, predominantly MODY genes. There are no systematic studies of the recessively inherited causes of monogenic diabetes that are likely to be more common in populations with high rates of consanguinity. We aimed to determine the contribution of recessive causes of monogenic diabetes in paediatric diabetes clinics and to identify clinical criteria by which to select individuals for recessive monogenic diabetes testing.

Comparison of the effectiveness of simple carbohydrates on hypoglycemic episodes in children and adolescents with type 1 diabetes mellitus: A randomized study in a diabetes camp.

Background: Hypoglycemia is the most common and severe complication of insulin treatment during the management of type 1 diabetes mellitus (T1DM). Despite its importance, there is a lack of data about the efficacy and superiority of the carbohydrate sources used in hypoglycemia management in children and adolescents.

Objective: We aimed to compare the effectiveness of honey, fruit juice, and sugar cubes as simple carbohydrates used in the primary treatment of hypoglycemia in children and adolescents with T1DM, who attended a diabetes summer camp.

The Relationship Between Glycemic Variability and Inflammatory Markers in Obese Children with Insulin Resistance and Metabolic Syndrome.

Objective: Increased glycemic variability (GV) is associated with increased oxidative stress, vascular complications, and mortality in metabolic syndrome (MS) and diabetes mellitus patients. To investigate the relationship between GV and inflammatory parameters in obese children with insulin resistance (IR) and to elucidate their effects on the development of MS.

Methods: Fifty obese adolescents with IR were included in the study.

Can Stoss Therapy Be Used in Children with Vitamin D Deficiency or Insufficiency without Rickets?

Objective: Stoss vitamin D treatment has been recommended for its non-skeletal benefits in adults, but there is a lack of data on the optimal dose of vitamin D stoss therapy in children with vitamin D deficiency/insufficiency without rickets. This study aimed to compare efficiency/side effects of two different stoss therapy regimens (10 000 IU/kg and 300 000 IU vitamin D3) administered in children with vitamin D deficiency/insufficiency without rickets.

Methods: Sixty-four children who had vitamin D deficiency/insufficiency were studied.

Internet addiction, sleep and health-related life quality among obese individuals: a comparison study of the growing problems in adolescent health.

Background: The rapid rise in the global prevalence of obesity suggests that environmental factors may be responsible. The increased use of technology is associated with increased rates of obesity due to declines in physical activity and significant sedentary life style. Internet addiction is also a growing health issue associated with diminished physical activity and poor sleep quality as well as various health problems.

A Novel Mutation in Human Androgen Receptor Gene Causing Partial Androgen Insensitivity Syndrome in a Patient Presenting with Gynecomastia at Puberty.

Partial androgen insensitivity syndrome (PAIS) typically presents with micropenis, perineoscrotal hypospadias, and a bifid scrotum with descending or undescending testes and gynecomastia at puberty. It is an X-linked recessive disorder resulting from mutations in the androgen receptor (AR) gene. However, AR gene mutations are found in less than a third of PAIS cases.

A Comparison of Bladder Catheterization and Suprapubic Aspiration Methods for Urine Sample Collection From Infants With a Suspected Urinary Tract Infection.

This study compares 2 sampling methods for urine cultures in young infants. We analyzed data on urine samples obtained from 83 infants using 2 sources of urine: suprapubic bladder aspiration (SPA) and bladder catheterization. All specimens were subjected to both urinalysis and culture, and the results compared.

Frequency of red cell allo- and autoimmunization in patients with transfusion-dependent beta thalassemia and affecting factors.

In this study, we aimed to determine the frequency of red cell allo- and autoimmunization and analyze the factors responsible for the development of antibodies in patients with transfusion-dependent thalassemia. This crosssectional study was conducted on 139 patients with thalassemia major and intermedia who received leukodepleted RBC transfusions on a regular basis. Patients with a positive antibody screen were further tested for antibody identification by a gel method.