Search Results (4)

Background and Clinical Significance: Congenital myasthenic syndrome-4C (CMS4C) associated with acetylcholine receptor (AChR) deficiency is an autosomal recessive defect of the motor endplate caused by homozygous or compound heterozygous mutations in the CHRNE gene on chromosome 17p13. Case Presentation: The authors present a familial case of CMS4C with three affected children in a consanguineous Romani family. Muscle weakness, fatigue, and ocular muscle impairment were present in all cases; two of the three siblings had delayed motor milestones, highly arched palates, and facial weakness. None of the children expressed bulbar symptoms. One child expressed a severe form, with recurrent respiratory infections, and multiple hospitalizations, while the other siblings expressed a mild phenotype, without hospital admissions. Repetitive nerve stimulation showed a myasthenic-type decrement greater than 10% of several muscles. A pathogenic frameshift variant (NM_000080.4: c.1327del) in the CHRNE gene was found in a homozygous status in all the affected children and in both parents. After 6 months of Pyridostigmine and Salbutamol treatment, the evolution of the case was good, with the improvement of most of the signs and no need for hospitalization. Conclusions: Early genetic diagnosis and appropriate therapy in the context of a multidisciplinary approach is mandatory for an optimal long-term prognosis. Community-wide carrier screening through comprehensive genetic testing is imperative to ensure accurate genetic counseling in genetic isolates. The authors report this case due to the increased number of affected children in a consanguine family from a small Romani community. Full article

The objective of the article is to present an item analysis of selected subtests of the Czech version of the WJ IV COG battery from a group of Romani children, ages 7–11. The research sample consisted of 400 school-aged Romani children from the Czech Republic who were selected by quota sampling. A partial comparative sample for the analysis was the Czech population collected as norms of the Czech edition of © Propsyco (n = 936). The Woodcock–Johnson IV COG was used as a research tool. Statistical analysis was performed in Winstep software using Differential Item Functioning; differences between groups were expressed in logits and tested via the Rasch–Welch T-test. It was discovered that higher item difficulty was noted in the verbal subtests, although variability in item difficulty was found across all subtests. The analysis of individual items makes it possible to discover which tasks are most culturally influenced. Full article

Fluoride is recommended for its cariostatic effect, but excessive fluoride intake may have health risks. Increased prevalence of dental fluorosis in areas with low fluoride content in drinking water has been attributed to the inappropriate excessive intake of fluoride supplements (tablets and drops) and toothpaste ingestion. The aim of the present study was to estimate the fluoride intake and the risk of fluorosis in children (6 months–6 years) in the Castelli Romani area (province of Rome, Italy), which is volcanic, therefore with a higher concentration of fluorine. Measurements of the fluoride content in drinking water, mineral waters, vegetables and commercial toothpaste for children were performed. The fluoride concentrations of all samples were determined using a Fluoride Ion Selective Electrode (GLP 22, Crison, Esp). Data were analyzed by descriptive statistics. Differences between samples were determined by Student’s t-test. The fluoride content in tap water samples collected from public sources averaged from 0.35 to 1.11 ppm. The Pavona area showed the highest content of fluoride with respect to the others (p ≤ 0.05). The fluoride content in mineral water samples averaged from 0.07 to 1.50 ppm. The fluoride content of some vegetables showed increased mean values when compared to control vegetables (p ≤ 0.05). Within the limitations of the present study, considerations should be made when prescribing fluoride toothpaste for infants (6 months–4 years) in the areas with high fluoride content, because involuntary ingestion is consistent. Full article

Our study is based on the hypothesis that the prevalence of malocclusions in children is higher in the mining areas from North-Western (NW) Romania than in other geographic areas. We also considered that the distribution of the different types of malocclusions can be correlated with environmental factors. Therefore, the main purpose of the current study was to assess the prevalence of malocclusions in children from the mining areas in NW Romania. Another purpose was to establish the influence of certain environmental factors such as gender, geographical area of origin, and ethnicity on the distribution of malocclusions in order to provide an epidemiological reference for the planning of preventive and treatment programs adapted to the particularity of the mining areas. This cross-sectional study was performed in 2015–2016. The study batch consisted of 960 children from the mining areas, aged 7–14 years, in the period of mixed dentition and early permanent dentition. The clinical examination was conducted by a single examiner, an orthodontic specialist (TBI), in order to avoid inter-operator bias. Occlusion was registered according to Bjoerk. Occlusal clinical signs were followed for the determination of malocclusions. Most children had malocclusions (93.5%). The percentage of anomalies was significantly higher in subjects from Rosia Montana, in girls, and in the Romanians. Data showed that Angle Class I was the most prevalent malocclusion (60.21%), followed by crowding (47.5%), midline shift (43.33%), and deep bite (28.65%). The independent association between ethnicity and total malocclusions shows that the Romanian subjects presented a 3.31 higher chance of developing malocclusions than the Romani ones. The presence of malocclusions was independently influenced by all the studied environmental factors, namely gender, geographical area, and ethnicity. Our results could be relevant for oral health policy-making, i.e., planning preventive and treatment measures of malocclusions, adapted to the peculiarity of the studied mining areas. Full article