Intestinal Microbiota, Obesity and Prebiotics.

Over the past few decades there has been a significant increase in the prevalence of obesity in both children and adults. Obesity is a disease that has reached epidemic levels on a global scale. The development of obesity is associated with both environmental and genetic factors. Recent studies indicate that intestinal microorganisms play an important function in maintaining normal body weight. One of the objectives in the gut microbiota research is to determine the role it plays and can it be a reliable biomarker of disease risk, including the predisposition to obesity. This article discusses (1) the role of prebiotics and gut microbiota in maintaining a healthy body weight and (2) potential influence on the gut microbiota in the prevention and treatment of obesity.

Delayed recognition of Wolfram syndrome frequently misdiagnosed as type 1 diabetes with early chronic complications.

AIMS: Improvements in diagnostic methods and greater genetic awareness have brought remarkable progress in the recognition of monogenic forms of diabetes, including Wolfram syndrome (WFS). WFS is diagnosed based on clinical criteria of coexistence of diabetes mellitus and optic atrophy, and confirmed by molecular analysis; however, the condition is still sometimes misdiagnosed. To begin to understand the reasons for misdiagnosis, we conducted a retrospective analysis of WFS patients who were originally misdiagnosed. MATERIALS AND METHODS: The medical histories of 13 pediatric patients with clinical misdiagnosis of type 1 diabetes and early chronic complications made in the years 1995-2010 and who were subsequently correctly diagnosed with WFS based on genetic testing in 2008-2011 were analyzed. RESULTS: The average age of the patients at diabetes onset was 5 (4.4-6.3) years, and the mean HbA1c level at diagnosis was 9.1±2.3%. Initially, all of these patients were treated as having type 1 diabetes with progressive visual impairment despite good metabolic control (mean HbA1c 7.5±1.3%). Diagnosis of optic atrophy was made at an average age of 9 (5.9-11.5) years, which corresponds to 4 years after diabetes recognition (p=0.002). At the time of genetic analysis, the average age of the patients was 16 (12-18.7) years, which corresponds to 7 years after recognition of coexistence of diabetes mellitus and optic atrophy (p=0.007). CONCLUSIONS: Delays of at least 7 years occurred before recognition of WFS among a cohort of pediatric patients with diabetes. All patients with WFS were primarily misdiagnosed as having type 1 diabetes.

Wolfram syndrome in the Polish population: novel mutations and genotype-phenotype correlation.

OBJECTIVE: Wolfram syndrome is a rare form of diabetes mellitus associated with optic atrophy and disorders of different organs (e.g. diabetes insipidus, hearing loss, ataxia, anaemia and many others). This syndrome is caused by recessive mutations in the wolframin gene (WFS1) localized on chromosome 4p16·1. The aim of this study was to identify the causative mutations in WFS1 in a group of Polish patients with suspected Wolfram syndrome. PATIENTS AND MEASUREMENTS: Nine patients with clinical symptoms consistent with Wolfram syndrome (at least diabetes mellitus and optic atrophy) and 22 first-degree relatives were examined. The molecular analysis was carried out by direct sequencing of the exons, the exon-intron junctions, and the 5' and 3' untranslated regions of WFS1. RESULTS: Nine different mutations in WFS1 (five of them novel) were identified in the nine patients. Six patients were homozygous for the following mutations: V412fs, S443R, W539X, V659fs. They developed diabetes at a mean age of 5·2 years. Three patients were compound-heterozygous for the following mutations: S167fs, Q392X, Y513fs, W648X, V779G. They developed diabetes at a mean age of 6·5 years. CONCLUSIONS: Mean age of diagnosis of diabetes among the Polish patients was typical for Wolfram syndrome; however, compound-heterozygous patients were slightly older at diabetes onset.

Relationship between metabolic parameters and thyroid hormones and the level of gastric peptides in children with autoimmune thyroid diseases.

Overweight and diseases connected with it are increasing problems in children and adults. We often observe change of weight in thyroid disease. It is emphasized that changes in hormones such as peptide levels are in close relationship with regulation of body mass: ghrelin increases appetite and in effect increases body mass, but obestatin decreases appetite and weight. The aim of the study was to analyze the relationship between lipid-carbohydrate metabolism parameters and thyroid hormones and the level of gastric peptides (ghrelin and obestatin) in young patients with Graves' disease, Hashimoto's thyroiditis and in children with simple goiter. The study group formed 78 patients suffering from Graves' disease (29 girls and 2 boys; aged from 6 to 21 - mean 15,2 yrs) and Hashimoto's thyroiditis (29 girls and 3 boys; aged from 9 to 18--mean 14.5 yrs). The control group consisted of children with simple goiter--13 girls and 2 boys; aged from 9 to 18 --mean 14.8 yrs. In all patients, ghrelin and obestatin levels were analyzed by the RIA method (Phoenix Pharmaceuticals, USA). In children and adolescents with untreated Graves' disease we found higher levels of insulin and HOMA-IR index compared to the group of children with simple goiter (34 +/- 8 microIU/mL vs 15 +/- 5; p < 0.03; 7.3 +/- 1.2 vs 3 +/- 0.3, p < 0.03). No significant correlations were observed of gastric hormones with antithyroid antibodies, lipids or h-CRP in patients with untreated hyperthyroidism and subclinical hypothyroidism. Positive correlation was noted of insulin and glucose levels and HOMA-IR index with ghrelin level in children with newly diagnosed Graves' disease (r = 0.109, p < 0.045; r = 0.176, p < 0.036; r = 0.174, p < 0.037). The correlation was also positive between obestatin level and HOMA-IR index in children with subclinical hypothyroidism in the course of Hashimoto's thyroiditis (r = 0.497, p < 0.011). We also examined the relationship between BMI, thyroid hormones and the level of gastric peptides. In untreated GD patients, ghrelin level exhibited a significant negative correlation with fT3 and fT4 (r = -0.38, p < 0.041; r = -0.459, p < 0.012) and positive with TSH (r = 0.38, p < 0.041) and BMI (r = 0.8, p < 0.01). In conclusion, we suggest that the disturbances in carbohydrate parameters in thyroid diseases have an essential effect on change of hormone-controlled appetite: ghrelin (in hyperthyroidism) and obestatin (in Subclinical hypothyroidism).

Clinical usefulness of a bolus calculator in maintaining normoglycaemia in active professional patients with type 1 diabetes treated with continuous subcutaneous insulin infusion.

This observational study assessed metabolic control in young, active professionals with type 1 diabetes treated with continuous subcutaneous insulin infusion (CSII) with or without the use of a bolus calculator. Eighteen patients aged 19 - 51 years with diabetes duration of 6 - 22 years were included; eight patients used a bolus calculator and 10 did not. Metabolic control was assessed by glycosylated haemoglobin (Hb(A1c)) measurements and blood glucose profiles. A continuous glucose monitoring system (CGMS) was also used by three patients from each group. Mean Hb(A1c) and fasting blood glucose levels were not significantly different between the two groups, but mean post-prandial blood glucose was significantly lower in bolus calculator users than non-users. The CGMS showed more blood glucose levels within the target range in bolus calculator users than non-users, but statistical significance was not achieved. In conclusion, a bolus calculator may help to improve postprandial blood glucose levels in active professional type 1 diabetes patients treated with CSII, but does not have a major impact on Hb(A1c) levels.

[Anorexia as the main symptom of gastroesophageal reflux: case study of a 13.5-year-old girl]. / Jadlowstret glównym objawem refluksowego zapalenia przelyku u 13,5-letniej dziewczynki.

13.5-year-old girl who was admitted to hospital because of anorexia nervosa started to complain of abdominal pain in her 3-rd week of hospitalization. She underwent 24-hour pH-metry and upper GI endoscopy. These procedures showed that GER was the cause of anorexia. Therapeutic management led to marked improvement.

[Goiter in school children from the Swietokrzyski region]. / Wole u dzieci szkolnych w regionie swietokrzyskim.

5982 of children living in Kielce district, aged 6.5-14.5 years were randomly selected for the study. The size of the thyroid gland was examined clinically. In some children the estimation of serum T3, T4 and TSH was performed, as well as iodine urine excretion. The iodine content in drinking water was also measure. The results of the study show that the Kielce district belongs to the mild degree of iodine deficiency. The verification of the iodine prophylaxis in this region is necessary.