[Neurofibromatosis type 1 - description of clinical features and molecular mechanism of the disease]. [Nerwiakowłókniakowatość typu 1-opis obrazu klinicznego oraz molekularnych podstaw rozwoju choroby.]
Jackowska T.,Klinika Pediatrii
Medycyna wieku rozwojowego | Year: 2013
Neurofibromatosis type 1 (NF1) called also von Recklinghausen's disease is an autosomal dominant genetic disorder with a complex clinical course. Clinical signs and symptoms concern mainly skin (with pigmentation abnormalities- café au lait macules, axillary/groin freckling and neurofibromas) and central nervous system (cognitive impairment, epilepsy, attention deficit hyperactivity disorder and gliomas). However, pathologic changes may also affect other organs and systems, including skeletal system (scoliosis, hypostature, osteoporosis, pseudoarthrosis and sphenoid wing dysplasia) or cardiovascular system (hypertension, inherited cardiovascular malformations). Another characteristic abnormality, which is an important diagnostic criterion of the disease, is the presence of Lisch nodules- hamartomatic changes of the iris. The development of NF1 is a consequence of inactivation of NF1 gene. The gene, located on chromosome 17, has one of the greatest frequencies of spontaneous mutation in the whole human genome. Gene product, a cytoplasmic protein called neurofibromin, is a tumor suppressor, with expression detected in various cells, mainly in malanocytes, neurons, Schwann cells and glial cells. Due to its anti-tumoral function, inactivation of NF1 protein leads to the growth of several neoplasms, concerning mainly skin and central nervous system (CNS). Skin tumors are actually malignances of the peripheral nervous system (PNS) and include cutaneous, subcutaneous and plexiform neurofibromas. In the CNS the most frequently occurring tumors are gliomas located in the optic pathway, followed by those developing in other parts of CNS. Histologically, CNS tumors are usually a benign pilocytic astrocytoma, consisting of malignant-transformed astrocytes.
[Polymorphism rs9939609 of FTO gene is related to the body mass index in children from Podlaskie voievodship]. [Polimorfizm rs9939609 genu FTO jest zwiazany ze wskaznikiem masy ciala dzieci z wojewodztwa podlaskiego.]
Tercjak-Recko M.,Klinika Pediatrii
Medycyna wieku rozwojowego | Year: 2012
The presence of obesity and the features of metabolic syndrome plays a predictive role in cardiovascular diseases (CVD) in adults. It seems reasonable to seek new risk factors in the development of CVD. Defining the genetic background of obesity could help to select patients from a high risk group and help to introduce prevention and treatment, which, in consequence, lead to the lowering of morbidity and mortality. One of the genes probably related to the body weight is the Fat Mass and Obesity Associated Gene (FTO). of the study was an attempt to assess the relationship between the FTO polymorphism rs9939609 and body mass index in children from Podlaskie voievodship. 405 children aged 4-18 were selected for the study. The examination included body mass index, waist circumference, blood pressure and lipid profile analysis. FTO rs9939609 polymorphism was assessed using a discrimination allele method with the application of ABI 7900HT Fast Real-Time PCR System. FTO rs9939609 polymorphism was related to the standarized body mass index and the AA genotype carriers had a higher risk of obesity. This polymorphism was also associated with waist circumference, systolic blood pressure and triglycerides concentration. It was not correlated with diastolic blood pressure and total HDL- and LDL-cholesterol concentrations. Our results demonstrate that rs9939609 FTO gene polymorphism is related to the body mass index in children. Our results should be confirmed in studies on a large cohort of healthy Polish children.
Uscinowicz M.,Klinika Pediatrii
Medycyna wieku rozwojowego | Year: 2011
of this study was to assess the incidence and the cause of hospitalization of children with cholecystolithiasis. Material and methods: A retrospective analysis was carried out using medical data of children and adolescents treated in the Department of Pediatrics, Gastroenterology, and Pediatric Allergology of Bialystok Medical University. The analysis included causes of hospitalization, its course and accompanying illnesses. During the 4 years of analysis, 47 children (17 boys, 30 girls), aged from 7 months to 18 years, with the diagnosis of cholecystolithiasis were treated. The comprised 1.18% of children hospitalized with gastrointestinal disorders. Cholecystolithiasis without complications was diagnosed in 29 children (61.7%), with cholecystitis in 13 (27.7%), choledocholithiasis was diagnosed in 5 children (10.6%). In 11 children (23.4%) the complication presented in form of acute pancreatitis. In 23 children (48.9%) factors predisposing to chorocholelithiasis were identified. In 20, the following were considered to be a possible significant factor: in 7 children there was a positive family history (14.9%), in 6 children (12.8%) - it was obesity, in 3 children (6.4%) lipid metabolic errors: prematurity and parenteral feeding in 2 children (4.3%) and spherocytosis in 2 children (4.3%). Apart from the above, cholelithiasis was diagnosed in two children with hypothyreosis and in two with Down's Syndrome. In treatment of 20 children (42.6%) antibiotics were prescribed and in 4 children (8.5%) endoscopic sphincterotomy was performed. 25 children (53.2%) were referred for laparoscopic cholecystectomy. In 16 children (34.0%), treatment with ursodeoxycholic acid was recommended. Cholecystolithiasis is a rare cause of hospitalization in pediatric departments. However, it occurs in even the youngest children. It usually runs without complications, but there is a certain risk of serious complications. In the differential diagnosis of abdominal pain, cholelithiasis should be taken into account, even in the youngest children. Special consideration should be given to the premature, with low birth weight and extremely low birth weight.
Wedrychowicz A.,Klinika Pediatrii
Przegla̧d lekarski | Year: 2010
INTRODUCTION: Effectiveness of enteral nutrition therapy is not only connected with improvement of the nutritional status of the patient, but also with its strong anti-inflammatory activity. Angiogenic growth factors play an important role in the early stage of inflammation. Vascular endothelial growth factor (VEGF) and transforming growth factor beta 1 (TGF-beta 1) stimulate the angiogenesis and healing processes. The objective of our study was to assess the influence of the enteral nutrition therapy on the vascular endothelial growth factor (VEGF) and transforming growth factor beta 1 (TGF-beta 1) concentrations in serum in children with different diseases of gastro-intestinal tract, in which enteral nutrition therapy is effective method of treatment. MATERIAL AND METHODS: Sixty two children (29 boys, 33 girls, mean age: 12.5 yrs, range: 6-18 yrs) and 25 healthy controls were included into the study. The Crohn's disease group (CD) consisted of 25 patients, ulcerative colitis group (UC)-18 patients, acute pancreatitis (AP) group-12 patients and severe malnutrition (N) group-7 patients. Serum VEGF and TGF-beta 1 concentrations were assessed at baseline, before starting and after 2 and 4 weeks of enteral nutrition therapy using ELISA immunoassays (R and D Systems, USA). RESULTS: Before starting enteral nutrition, we found increased VEGF concentration in CD group (Me = 600 pg/ml) compared to UC group (266.9 pg/ml), AP group (552.6 pg/ml), N group (238.5 pg/ml) and controls (172 pg/ml) (p < 0.05). We found decrease of VEGF concentrations during enteral nutrition in CD, UC and N group and increase in AP at the beginning, followed by decrease to the initial values. Assessing TGF-beta 1, we found its concentration increased before starting enteral nutrition in UC group (37.5 ng/ml) compared to CD group (29.7 ng/ ml) and controls (24.8 ng/ml) (p < 0.05). During enteral nutrition we observed decrease of TGF-beta 1 concentration in UC group and increase in CD group (32,7 ng/ml) and AP group (26,6 ng/ml) (p < 0.05) The best improvement of nutritional status was observed in CD patients compared to N and AP patients. CONCLUSIONS: Differentiation of serum VEGF and TGF-beta 1 concentrations, what was observed in various gastro-intestinal diseases, reflects different mechanisms of enteral nutrition therapy acting on the inflammatory process. The most efficient therapeutic effect was seen in CD, where stimulation of TGF-beta 1 production was observed.
Szajewska H.,Klinika Pediatrii
Przeglad Gastroenterologiczny | Year: 2012
Not all probiotics are created equal. The efficacy and safety of each probiotic microorganism has to be evaluated separately. This paper aims to systematically evaluate the effectiveness and safety of Saccharomyces boulardii in children and adults. The MEDLINE and The Cochrane Library (both up to June 2012) were searched for randomized controlled trials or their metaanalyses relevant to S. boulardii. Available evidence documents that S. boulardii is effective in treating acute gastroenteritis in children and preventing antibiotic-associated diarrhoea in children and adults treated with antibiotics for any reason. S. boulardii is probably effective in preventing Clostridium difficile infection and for the prevention of traveller's diarrhoea. In patients with Helicobacter pylori infection, there is evidence to recommend the use of S. boulardii along with standard triple therapy as an option for increasing the eradication rates and decreasing overall therapy-related side effects, particularly diarrhoea.