DICER1 Syndrome.

DICER1 syndrome is an inherited disorder that increases the risk of different types of malignant and benign tumors. The syndrome is caused by mutations in the DICER1 gene, which is located on the long arm of chromosome 14, region q32.13. Patients with DICER1 syndrome commonly develop pleuropulmonary blastoma (PPB), multinodular goiter, ovarian Sertoli-Leydig cell tumors, and/or other types of tumors. In approximately 35% of families with children manifesting PPB, further (and rather rare) malignancies may be observed, including cystic nephroma, nodular dysplasia of the thyroid gland, medulloepithelioma of the iris, embryonal rhabdomyosarcoma botryoid type, nasal epithelial hamartoma, pituitary blastoma, and/or pineoblastoma. Large studies report a high variability of tumors associated with DICER1. DICER1 syndrome, which is associated with an inherited predisposition to tumors, is inherited in an autosomal dominant pattern. Symptoms of DICER1 syndrome may vary, even within families. Preventive screening of carriers with causative mutations is complicated. Follow-up is undertaken as recommended by the 2016 International PPB Register. This work was supported by grant of Ministry of Health of the Czech Republic AZV 16-3329A. The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study. The Editorial Board declares that the manuscript met the ICMJE recommendation for biomedical papers. Submitted: 4. 6. 2019 Accepted: 6. 6. 2019.

Alcohol and drug intoxications in adolescents admitted to paediatric wards in the Czech Republic: 5-year retrospective study 2006-2010.

OBJECTIVES: The aim of the study was to establish frequency, severity and circumstances of alcohol and drug intoxications in adolescents admitted to inpatient wards in the Czech Republic. METHODS: Chief physician of each participating ward (or their designated deputy) searched the patient records for required information. The data was then statistically processed. RESULTS: Thirty inpatient paediatric wards participated in the study (27 district wards and 3 university hospital wards), amounting to more than a third of all paediatric wards in the country. The total number of intoxications reported was 2,176, the majority of which were alcohol-related (84.5%), followed by cannabinoids and, to a lesser degree, amphetamines. The number of alcohol intoxications increased by 22% during the 5-year observation period, whilst the frequency of illegal drugs intoxications remained the same. We also observed an increase in the percentage of alcohol intoxications in girls - from 42% to 45.5%. The mean age at intoxication was low - 15.5 years. The Glasgow Coma Scale in individual episodes of intoxication increased during the study duration/follow up period. The proportion of alcohol intoxications originating in pubs, clubs or other public institutions was 25%. CONCLUSION: The number of alcohol intoxications has risen during the observation period. The age at which these intoxications occurred is very low. Of serious concern is the fact, that 25% of alcohol intoxications originated in places where alcohol is sold, despite the fact that majority of the adolescents were under the legal drinking age limit of 18 years.