Genetic syndromes with vascular malformations - update on molecular background and diagnostics.

Vascular malformations are present in a great variety of congenital syndromes, either as the predominant or additional feature. They pose a major challenge to the clinician: due to significant phenotype overlap, a precise diagnosis is often difficult to obtain, some of the malformations carry a risk of life threatening complications and, for many entities, treatment is not well established. To facilitate their recognition and aid in differentiation, we present a selection of notable congenital disorders of vascular system development, distinguishing between the heritable germinal and sporadic somatic mutations as their causes. Clinical features, genetic background and comprehensible description of molecular mechanisms is provided for each entity.

Adolescent idiopathic scoliosis and malocclusion - a cross sectional study of female patients without previous orthodontic treatment.

The purpose of the present study was to assess the prevalence of various types of malocclusions in a group of female patients with adolescent idiopathic scoliosis (AIS), as well as the association between occlusal anomalies and the side, location, and severity of the spine deformity. The study group was comprised of 60 females aged 12-16 years with AIS and 54 healthy controls. Apart from clinical examination, alginate impressions and wax bites were taken. Occlusal traits were assessed on the casts in maximum intercuspation. Data were statistically analyzed with a significance taken as p < 0.05. All patients with AIS showed at least one abnormal orthodontic trait, while 9 (16.7%) patients from the control group had dentition free from any orthodontic anomaly. The difference was statistically significant (p = 0.0032). In the sagittal dimension, patients with AIS had a higher frequency of bilateral distocclusion and unilateral mesiocclusion as compared to the control group (p = 0.0004 and p = 0.0034, respectively). They also showed crowding, increased overjet and overbite more often than healthy age- mates (p = 0.0417, p = 0.0121, and p = 0.0166, respectively). Regarding the association between site, side, or severity of scoliosis and the occurrence of the malocclusion, asymmetric molar occlusion was more frequently observed in patients with right convex (p = 0.0149), while unilateral mesiocclusion, appeared more often in patients with the thoracic apex of the curve (p = 0.0349). The results emphasize a need for collaboration between orthopedists and orthodontists in the complex medical care for scoliotic individuals. Orthodontic treatment can alleviate negative impact that a malocclusion has on the oral health, aesthetics, and psychological well-being of this vulnerable group of patients.

Factors affecting puberty gingivitis in Polish girls with adolescent idiopathic scoliosis.

OBJECTIVES: Age at menarche and hormonal disturbances have been linked to the occurrence and severity of adolescent idiopathic scoliosis (AIS). Concomitantly, an increase in the production of sex hormones during puberty may result in steroid hormones-related gingivitis. Thus, the study aimed to assess the prevalence and factors affecting puberty gingivitis, including menarcheal status, in female patients with AIS and control subjects. MATERIAL AND METHODS: The study group was comprised of 59 girls aged 12-16 years with AIS and 50 healthy controls. Dental examination included the assessment of oral hygiene, gingivitis, and dental caries intensity. Data were statistically analyzed with a significance taken as p < 0.05. RESULTS: There wasn't any statistically significant difference in the age at menarche and menarcheal status of both groups. During regression analysis, three predictors significantly affected gingival status of girls: oral hygiene, orthopedic condition, and laterality of the curve. Scoliosis and left convex of the curve significantly increased the index of gingival inflammation. CONCLUSIONS: The results indicate that gingivitis is frequent among female adolescents with AIS, due to poor oral hygiene and higher susceptibility to inflammation. It emphasizes a need for a development of preventive strategy for scoliotic patients, since incipient periodontal problems in children may turn into irreversible advanced periodontal diseases in adults.

Detection and identification of potentially toxic cyanobacteria in Polish water bodies.

The main goal of this study was to determine the distribution of potentially toxic cyanobacteria in 39 selected Polish water bodies. From the water bodies with blooms and also from those in which blooms were not visible 87 samples were investigated. For the first time samples from ponds localized in villages with high agricultural activities were included. Lakes for which microcystin concentrations had been determined before were included as a reference for the research. The detection of cyanobacteria was conducted by microscopic observation as well as by PCR amplification of the rpoC1 gene fragment. Cyanobacteria were present in 75 out of 87 samples. The presence of potentially toxic cyanobacteria was detected by amplification of the mcyB and mcyE genes, which are involved in the biosynthesis of microcystins. Both genes were detected in 7 out of 9 blooms investigated. In the case of samples collected from water bodies in which blooms were not observed, the mcyB and mcyE genes were detected in 20 out of 36. In order to identify the cyanobacteria occurring in selected reservoirs, 16S plus ITS clone libraries were constructed. The method allowed distinguishing 18 different genotypes. After sequence analysis, cyanobacteria belonging to genera Microcystis, Planktothrix, Anabaena, Pseudanabaena, Synechocystis, Synechococcus and Woronichinia were identified. Results confirmed the usefulness of the rpoC1 and mcy genes for monitoring water bodies and detection of potentially toxic cyanobacteria. Application of molecular markers allowed detecting potentially toxic cyanobacteria before the bloom was visible. This is the first comprehensive study concerning cyanobacteria present in different types of Polish water bodies performed using molecular markers.