HPCA confirmed as a genetic cause of DYT2‐like dystonia phenotype

Background: HPCA (hippocalcin) is one of the underlying genetic causes of autosomal‐recessively inherited forms of dystonia. Here, we describe two consanguineous Turkish DYT‐HPCA families carrying the novel HPCA mutations. Methods: After detailed clinical and neurological examination, whole‐exome sequencing was performed. Results: Whole‐exome sequencing analysis revealed two homozygous novel truncating mutations (p.W103* and p.P10PfsTer80) in the HPCA gene in two unrelated Turkish dystonia families presenting with complex dystonia. Conclusions: After identification of HPCA as a genetic cause of DYT‐HPCA‐like dystonia by Charlesworth et al, this is the second report in the scientific literature that describes dystonia families harboring HPCA mutations. Our findings confirm that HPCA leads to recessively inherited dystonia. © 2018 International Parkinson and Movement Disorder Society     

Does Correction of Strabismus Improve Quality of Life in Children with Autism Spectrum Disorder: Results of a Parent Survey by Ophthalmologists

Purpose: Ophthalmic problems are reported to be common in children with autism spectrum disorder (ASD), and strabismus is of particular importance. We aimed to investigate the outcomes of strabismus management in cases with ASD and identify the impact of optical or surgical correction of the strabismus on the child using a questionnaire for parents. Methods: A survey was designed to assess parents’ perceptions of pre-management and post-management quality of life in 41 children aged 5–17 years with ASD and strabismus using a questionnaire with 10 questions, including three subscales. Results: Significant improvements were noted after management in functional limitations (P < 0.01), psychosocial interactions (P < 0.01), and ocular alignment (P < 0.01) subscales. Conclusion: This is the first study of the literature that investigated the impact of ocular re-alignment on behavioral patterns and social interactions of children with ASD and strabismus.     

Perfluorooctanoic Acid Affects Mouse Brain and Liver Tissue Through Oxidative Stress

The aim of this study was to investigate oxidative stress induced by perfluorooctanoic acid (PFOA) in the brain and liver tissues of Balb/c mice as well as protective effects of taurine and coenzyme Q₁₀ (CoQ₁₀) in both organs. For this purpose, animals were treated with PFOA (15 and 30 mg/kg) orally and their lipid peroxidation, total glutathione levels (GSH), and antioxidant enzyme activities measured and both tissues analysed for histopathological changes. Our results showed a dose-dependent decrease in body weight and increase in relative brain and liver weights, PFOA-induced lipid peroxidation and reduced glutathione peroxidase (GPx) activity in the brain tissue, and changes in GSH levels, GPx, superoxide dismutase (Cu-Zn SOD), and catalase (CAT) activities in the liver tissue. Pre-treatment with taurine or CoQ₁₀ provided protection against PFOA-induced Cu-Zn SOD reduction in the liver tissue. Our findings evidence the depleting effect of PFOA on antioxidative systems and confirm that PFOA exerts its (neuro)toxicity through oxidative stress, but further research is needed to identify the exact toxicity mechanisms, especially in the brain.Key words: body weight, CAT, CoQ₁₀, GPx, GSH, hepatotoxicity, in vivo, neurotoxicity, oxidative damage, PFOA, relative organ weight, SOD, taurine     

Compatibility of digital and analog methods in assessment of gingival zeniths

Objective

The compatibility of digital and analog methods assessing the positions of gingival zenith (GZ) points has not been evaluated before. Therefore, the aim of this study was to investigate the accuracy of a digital scanner and a three-dimensional (3D) measuring tool in specifying positions of GZs by comparing it to the conventional method, an analog plaster cast and a caliper.

Materials and Methods

Both analog and digital impressions were obtained from 32 individuals. Following measurements were conducted in the anterior maxillary region from canine to canine on both the plaster casts and 3D images: (1) The distance from GZ to the corresponding vertical midline in each tooth (GZVM), (2) The distance from GZ of lateral incisor to the corresponding tangent that connects GZs of central incisor and canine (GZLI).

Results

The intraclass correlation coefficients (ICC) of GZVM in each tooth varied between 0.366 and 0.755, demonstrating moderate to good compatibility between the two methods. The ICC of analog and digital GZLI for the right and left lateral incisors was 0.788 and 0.395, respectively.

Conclusion

The digital and analog methods used in this study are compatible in determining the positions of GZs. Therefore, within the limitations of the present study, the choice of method can be based on the available equipment, time, comfort, and personal preference of the researcher.

Clinical Significance

Both digital and analog methods have the capability of determining the positions of GZs in compatible way.