The aim of the study was to analyze the clinical symptoms of the tic disorder in children and adolescents and verify the diagnosis of the Tourette's syndrome.

The analysis was conducted on a group of 123 patients at the age of 11.1 +/- 3.2 years, admitted to the Chair and Department of Developmental Neurology to diagnose and treatment of the tic disorder.

Variable tics symptomatology were observed in 53 patients (43,1%). The simple motor tics occurred in 121 patients from the researched group (98,4%), the complex motor tics in 7 cases (5,7%) and the vocal tics in 55 cases (44,7%). The dominant symptoms of simple motor tics in the researched group included: blinking occurring in 67 patients (54,5%) and the head movements occurring in 62 children (50,4%). The complex motor tics were the most frequently manifested by jumping - 4 patients (3,3%). The vocal tics manifested as throat cleaning were observed in 40 patients (32,5%). Coprolalia was observed only in 4 children (3.3%). The obsessive – compulsive disorders occurred in 3 patients (2,4%). In 41 examined patients (33,3%) the co-existence of tics with ADHD symptoms was observed.

The diagnostic criteria of the Tourette's syndrome according to DSM-IV were met by 44 patients (35,8%).

The symptomatology of the tics in children and adolescents are exceptionally rich and the symptoms are highly variable. The Tourette's syndrome is still too seldom recognised as the reason of tics in children and teenagers, despite the patients meeting the diagnostic criteria.

Background: Focal cortical dysplasias (FCDs) are congenital structural abnormalities of the brain, and represent the most common cause of medication-resistant focal epilepsy in children and adults. Recent studies have shown that somatic mutations (i.e. mutations arising in the embryo) in mTOR pathway genes underlie some FCD cases. Specific therapies targeting the mTOR pathway are available. However, testing for somatic mTOR pathway mutations in FCD tissue is not performed on a clinical basis, and the contribution of such mutations to the pathogenesis of FCD remains unknown. Aim: To investigate the feasibility of screening for somatic mutations in resected FCD tissue and determine the proportion and spatial distribution of FCDs which are due to low-level somatic mTOR pathway mutations. Methods: We performed ultra-deep sequencing of 13 mTOR pathway genes using a custom HaloPlexHS target enrichment kit (Agilent Technologies) in 16 resected histologically-confirmed FCD specimens. Results: We identified causal variants in 62.5% (10/16) of patients at an alternate allele frequency of 0.75–33.7%. The spatial mutation frequency correlated with the FCD lesion’s size and severity. Conclusions: Screening FCD tissue using a custom panel results in a high yield, and should be considered clinically given the important potential implications regarding surgical resection, medical management and genetic counselling.

Activity of brown and beige adipocytes could contribute to breed differences in fat deposition. Therefore, we compared the abundance of markers for adipocyte types in steers from three cattle breeds differing in fat deposition (Japanese Black, Holstein, Charolais). Markers for white (leptin (LEP)), beige (transmembrane protein 26 (TMEM26), uncoupling protein 1 (UCP1)), and brown adipocytes (Zic family member 1 (ZIC1), UCP1) were analysed by quantitative reverse transcription PCR in subcutaneous fat (SCF), intramuscular fat (IMF), intermuscular fat (IRMF), perirenal fat (PF) and visceral fat (VF). LEP messenger RNA (mRNA) was less abundant in VF compared with other depots (P<0.05). TMEM26 was weakly but evenly expressed in all depots in all animals, whereas UCP1 mRNA showed higher individual variation in some depots. ZIC1 was not detectable in VF and PF but abundant in SCF, IMF and even more abundant in IRMF (P<0.05). No significant breed differences were detected. Using antibodies against UCP1, TMEM26 and ZIC1, we demonstrated that fat depots of 26-month-old cattle still comprise different adipocyte types. However, our results did not support the hypothesis that higher energy expenditure associated with higher abundance or activity of beige or brown adipocytes contributed to differences in fat deposition.

Among several potential animal models that can be used for adipogenic studies, Wagyu cattle is the one that presents unique molecular mechanisms underlying the deposit of substantial amounts of intramuscular fat. As such, this review is focused on current knowledge of such mechanisms related to adipose tissue deposition using Wagyu cattle as model. So abundant is the lipid accumulation in the skeletal muscles of these animals that in many cases, the muscle cross-sectional area appears more white (adipose tissue) than red (muscle fibers). This enhanced marbling accumulation is morphologically similar to that seen in numerous skeletal muscle dysfunctions, disease states and myopathies; this might indicate cross-similar mechanisms between such dysfunctions and fat deposition in Wagyu breed. Animal models can be used not only for a better understanding of fat deposition in livestock, but also as models to an increased comprehension on molecular mechanisms behind human conditions. This revision underlies some of the complex molecular processes of fat deposition in animals.

A review is presented of Synchrotron X-ray Topography and KOH etching studies carried out on n type 4H-SiC offcut substrates before and after homo-epitaxial growth to study defect replication and strain relaxation processes and identify the nucleation sources of both interfacial dislocations (IDs) and half-loop arrays (HLAs) which are known to have a deleterious effect on device performance. We show that these types of defects can nucleate during epilayer growth from: (1) short segments of edge oriented basal plane dislocations (BPDs) in the substrate which are drawn by glide into the epilayer; and (2) segments of half loops of BPD that are attached to the substrate surface prior to growth which also glide into the epilayer. It is shown that the initial motion of the short edge oriented BPD segments that are drawn from the substrate into the epilayer is caused by thermal stress resulting from radial temperature gradients experienced by the wafer whilst in the epi-chamber. This same stress also causes the initial glide of the surface half-loop into the epilayer and through the advancing epilayer surface. These mobile BPD segments provide screw oriented segments that pierce the advancing epilayer surface that initially replicate as the crystal grows. Once critical thickness is reached, according to the Mathews-Blakeslee model [1], these screw segments glide sideways under the action of the mismatch stress leaving IDs and HLAs in their wake. The origin of the mismatch stress is shown to be associated with lattice parameter differences at the growth temperature, arising from the differences in doping concentration between substrate and epilayer.

Glyphosate is now the most widely used herbicide; after years of frequent utilization, resistant weeds were selected, mainly due to widespread adoption of glyphosate-resistant crops and no-tillage sowing system. Increasing difficulty in controlling Chloris polydactyla with glyphosate has been noticed in agricultural areas. Here, the susceptibility level of various C. polydactyla accessions from Brazil is examined. Two whole-plant studies were conducted to confirm the presence and extent of glyphosate susceptibility among accessions, which involved the application of seven glyphosate doses on four accessions. The four accessions showed different glyphosate susceptibilities. The “Matão” accession presented major tolerance for glyphosate compared to “Palotina” accessions. “Jaboticabal” plants showed an intermediary susceptibility. The resistance factor (RF) was 3.76 between the “Matão” and “Palotina” accessions. All biotypes died at 2,880 g ae ha−1 glyphosate.

Pearl millet (Pennisetum glaucum (L.) R. Br.) is an important staple cereal cultivated in the arid and semi-arid tropics of Asia and Africa, regions severely affected by malnutrition. Knowledge about the extent of genetic variability and patterns of agro-morphological variation in local germplasm from a target region is an important prerequisite for efficient crop improvement. To assess the potential of Sudanese pearl millet landraces as sources of desirable traits for pearl millet improvement including biofortification, a total of 225 accessions were evaluated in Sudan at three locations for agro-morphological traits and at one location for grain mineral nutrient contents (Fe, Zn, Ca, P, K, Mg, Mn, S, Na, Cu and β-carotene). Genetic variation was highly significant, but relatively limited for some agro-morphological traits (62–78 d to flowering, 119–188 cm plant height and 16–34 cm panicle length), pointing to the potential usefulness of a targeted diversification for these traits. Self-pollinated grain micronutrient contents showed a wide variation: 19.7–86.4 mg/kg for Fe and 13.5–82.4 mg/kg for Zn. Significant and positive correlations among most of the nutritional traits were observed; therefore, enhancement of the concentrations of some nutrients will lead to the improvement of other related nutrients. No significant associations were observed between the nutritional and agro-morphological traits, indicating good prospects for simultaneous improvement of both trait categories. No clear patterns of geographic differentiation for specific traits were detected for the Sudanese pearl millet. Nutrient-rich accessions were identified and those with acceptable agro-morphological traits are encouraging materials for future pearl millet biofortification programmes in Sudan.

The main aim of the present study was to examine the effects of long-term supplementing diets with saturated or unprotected polyunsaturated fatty acids from two different plant oils rich in either n-3 or n-6 fatty acids (FAs) plus docosahexaenoic acid (DHA)-rich algae on mammary gene expression and milk fat composition in lactating dairy cows. Gene expression was determined from mammary tissue and milk epithelial cells. Eighteen primiparous German Holstein dairy cows in mid-lactation were randomly assigned into three dietary treatments that consist of silage-based diets supplemented with rumen-stable fractionated palm fat (SAT; 3.1% of the basal diet dry matter, DM), or a mixture of linseed oil (2.7% of the basal diet DM) plus DHA-rich algae (LINA; 0.4% of the basal diet DM) or a mixture of sunflower oil (2.7% of the basal diet DM) plus DHA-rich algae (SUNA; 0.4% of the basal diet DM), for a period of 10 weeks. At the end of the experimental period, the cows were slaughtered and mammary tissues were collected to study the gene expression of lipogenic enzymes. During the last week, the milk yield and composition were determined, and milk was collected for FA measurements and the isolation of milk purified mammary epithelial cells (MECs). Supplementation with plant oils and DHA-rich algae resulted in milk fat depression (MFD; yield and percentage). The secretion of de novo FAs in the milk was reduced, whereas the secretion of trans-10,cis-12-CLA and DHA were increased. These changes in FA secretions were associated in mammary tissue with a joint down-regulation of mammary lipogenic enzyme gene expression (stearoyl-CoA desaturase, SCD1; FA synthase, FASN) and expression of the regulatory element binding transcription factor (SREBF1), whereas no effect was observed on lipoprotein lipase (LPL) and glycerol-3-phosphate acyltransferase 1, mitochondrial (GPAM). A positive relationship between mammary SCD1 and SREBF1 mRNA abundances was observed, suggesting a similar regulation for these genes. Such data on mammary gene expression in lactating cows presenting MFD contribute to strengthen the molecular mechanisms that govern milk fat synthesis in the mammary glands. In purified MEC, the dietary treatments had no effect on gene expressions. Differences between mammary tissue and milk purified MEC gene expression were attributed to the effect of lipid supplements on the number of milk purified MEC and its RNA quality, which are determinant factors for the analysis of gene expression using milk cells.

National and international policies have encouraged the establishment of a representative network of marine protected areas (MPAs) in South Africa, with the aim of protecting marine biodiversity. The extent to which these marine and estuarine protected areas (EPAs) represent marine fish species and communities was assessed by comparing their species compositions with those of exploited areas, as sampled using four fishing techniques. Seven hundred fish species were sampled, representing one-third of South Africa's marine fishes. MPAs in coastal habitats scored c. 40% on the Bray-Curtis measure of similarity for species representativeness, but this score declined markedly for offshore ‘trawlable’ fishing grounds. The combined effects of sampling error, temporal variation and the effects of fishing on relative abundance suggest that 80% similarity would be the maximum achieveable. Forty-nine per cent of all fish species that were recorded were found in the 14 MPAs sampled. Redundancy in the MPA network was low, with fish species most commonly being represented in only one MPA or absent. There was greater redundancy in the 33 EPAs, with 40% of species being found in two or more EPAs, but many of these estuaries were adjacent to each other and embedded in large MPAs. Deep water fish communities (>80 m deep) and communities located on the west and south-east coasts of South Africa were most poorly represented by MPAs. Routine fishery surveys provide a robust and repeatable opportunity to assess species representativeness in MPAs, and the method used could form the basis of an operational definition of ‘representative’. In contrast to an assessment based on presence-absence data, this analysis of quantitative data presents a more pessimistic assessment of protection.

Gallium nitride (GaN) is a robust piezoelectric semiconductor with excellent thermal and chemical stability, making it an attractive material for surface acoustic wave (SAW) sensors operating in high temperature and harsh environments. The sensitivity of SAW devices is proportional to the square of the operating frequency. Therefore, high operating frequencies into the GHz regime are desirable for SAW sensors. For GaN, this requires sub-micron interdigital transducers (IDTs) when devices are designed to operate at the fundamental Rayleigh mode frequency. The necessity for sub-micron IDTs can increase fabrication costs and complexity. By designing SAW devices to operate at harmonic frequencies, GHz operation can be realized with relatively large IDTs, resulting in simpler and more cost effective solutions for GaN based SAW sensors. Devices have previously been designed to operate at the 5th and higher harmonics on lithium niobate, but there are no reports of using this technique on GaN in the literature. In this study, GaN thin films have been grown via metal organic vapor phase epitaxy on sapphire substrates. SAW devices designed to operate at the fundamental frequency and higher harmonics have been fabricated and measured. Operating frequencies greater than 2 GHz have been achieved using IDTs with 5 μm fingers. In addition, reduction of electromagnetic feedthrough around the 5th and 7th harmonic is demonstrated through varying ground electrode geometries.