Anti-HERV-WEnv antibodies are correlated with seroreactivity against Mycobacterium avium subsp. paratuberculosis in children and youths at T1D risk.

Recent evidence points at the role that human endogenous retroviruses (HERVs) may play through the activation of genes integrated across the human genome. Although a variety of genetic/epigenetic mechanisms maintain most HERVs silenced, independent environmental stimuli including infections may transactivate endogenous elements favoring pathogenic conditions. Several studies associated exposures to Mycobacterium avium subsp. paratuberculosis (MAP) with increased anti-MAP seroreactivity in T1D patients. Here, we assessed humoral responses against HERV envelope antigens (HERV-KEnv and HERV-WEnv) and four MAP-derived peptides with human homologs in distinct populations: Sardinian children at T1D risk (rT1D) (n = 14), rT1D from mainland Italy (n = 54) and Polish youths with T1D (n = 74) or obesity unrelated to autoimmunity (OB) (n = 26). Unlike Sardinian rT1D, youths displayed increased anti-HERV-WEnv Abs prevalence compared to age-matched OB or healthy controls (24.32 vs. 11.54%, p = 0.02 for Polish T1D/OB and 31.48 vs. 11.90%, p = 0.0025 for Italian rT1D). Anti-HERV-KEnv responses showed variable trends across groups. A strong correlation between Abs levels against HERV-WEnv and homologous peptides was mirrored by time-related Abs patterns. Elevated values registered for HERV-WEnv overlaped with or preceded the detection of T1D diagnostic autoantibodies. These results support the hypothesis of MAP infection leading to HERV-W antigen expression and enhancing the production of autoantibodies in T1D.

[Direction of change in the somatic development in children and adolescents with type 1 diabetes]. / Kierunek zmian w rozwoju somatycznym u dzieci i mlodziezy z cukrzyca typu 1.

INTRODUCTION: Disorders of somatic development in children and adolescents with type 1 diabetes can lead to unstable course of the disease and the difficulties in obtaining good metabolic control. AIM: Evaluation of somatic development in children and adolescents with type 1 diabetes in different age categories. MATERIAL AND METHODS: Agroup of 97 girls and 90 boys with type 1 diabetes was examined. Children were divided into three age groups: girls with mean age of 9.1; 12.9; 16.2 years and boys with mean age of 7.6; 11.8; 16.2 years. In all subjects accurate anthropometric measurements and nutritional status assessment were conducted. Somatic traits and indices were expressed in terms of standard deviations of age and sex-specific Polish growth references. RESULTS: Body measurements in girls at the age of 9.1 years and boys at the age of 7.6 years did not differ significantly from the healthy population. Girls aged 12.9 years had significantly increased widths shoulder (p=0,003)) and greater body circumferences: waist (p=0,001), arm (p=0,0008) and hips (p=0,001). The boys aged 11.8 years have significantly larger greater trunk length (p=0,04) and upper limbs length (p=0,01). The oldest girls, at the age of 16.2 years excessive body weight (p=0,00001) also significantly increased circumferences of waist and hips (p=0,000001) were observed. Boys aged 16.2 years also showed significantly increased body circumferences (p=0,0001) which was particularly evident for boys with greater body height. Body mass index BMI in girls pointed to the overweight (1.50 SDS) while in boys it was normal (-0.05 SDS). The youngest girls, the duration of the disease was 2.9 +/- 0.6 years, in the older group 5.2 +/- 0.6 years and the oldest 6.9 +/- 0.6 years. The boys, the duration of illness was 1.9 +/- 0.6 years; 2.6 +/- 0.5 years; 4.8 +/- 0.7 years. The mean HbA 1c in girls was 7.1; 7.7; and 8.4%, while boys 7.4; 7.4 and 7.6%. CONCLUSIONS: Changes in body build in patients with diabetes type 1 are associated with chronological age, duration of disease and metabolic control. It has been observed that the increase of weight and waist circumference concern girls. Patients with overweight and obesity represent a risk of early development of complications and require special care.

[Glucokinase gene mutation as a causative factor of permanent neonatal diabetes mellitus]. / Mutacja w genie glukokinazy jako przyczyna utrwalonej cukrzycy noworodkowej.

INTRODUCTION: The most frequent type of diabetes in childhood is type 1 diabetes. Thanks to the development of genetic testing, the rare monogenic forms of that disease have been defined. One of them is neonatal diabetes identified within the first 6 months of life and often associated with the mutation in KCNJ11, ABCC8 or insulin gene. A less frequent mutation in the glucokinase gene can cause both permanent neonatal diabetes as well as mild diabetes MODY 2. CASE REPORT: A 33-day-old boy admitted to hospital because of hyperglycemia from the first day of life. Treatment with intravenous infusion of insulin since 5 days of life. A child born out of the first pregnancy in the 37th week of gestation, with hypotrophy symptoms. The pregnancy had been complicated by gestational diabetes. Birth weight 2030 g. Insulin and c-peptide level significantly below normal. Immunologic markers of type 1 diabetes were negative. A continuous subcutaneous insulin infusion using a personal insulin pump was begun in the 60th day of life. Irregularities in the economy of carbohydrates were found in the parents. A double mutation in the glucokinase gene in genetic testing explained the cause of neonatal diabetes. The boy had inherited from his parents two different mutations in glucokinase gene: from the mother S384L and from the father T207M. He is a complex heterozygote. CONCLUSIONS: Genetic diagnosis helped determine the cause of neonatal diabetes in the child and MODY 2 diabetes in the parents. Personal insulin pump therapy is the most effective treatment in children during infancy.