Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis

Neuronal ceroid lipofuscinoses (NCLs) are a heterogeneous group of lysosomal storage disorders. NCLs include the rare autosomal recessive neurodegenerative disorder neuronal ceroid lipofuscinosis type 2 (CLN2) disease, caused by mutations in the tripeptidyl peptidase 1 (TPP1)/CLN2 gene and the resulting TPP1 enzyme deficiency. CLN2 disease most commonly presents with seizures and/or ataxia in the late-infantile period (ages 2-4), often in combination with a history of language delay, followed by progressive childhood dementia, motor and visual deterioration, and early death. Atypical phenotypes are characterized by later onset and, in some instances, longer life expectancies. Early diagnosis is important to optimize clinical care and improve outcomes; however, currently, delays in diagnosis are common due to low disease awareness, nonspecific clinical presentation, and limited access to diagnostic testing in some regions. In May 2015, international experts met to recommend best laboratory practices for early diagnosis of CLN2 disease. When clinical signs suggest an NCL, TPP1 enzyme activity should be among the first tests performed (together with the palmitoyl-protein thioesterase enzyme activity assay to rule out CLN1 disease). However, reaching an initial suspicion of an NCL or CLN2 disease can be challenging; thus, use of an epilepsy gene panel for investigation of unexplained seizures in the late-infantile/childhood ages is encouraged. To confirm clinical suspicion of CLN2 disease, the recommended gold standard for laboratory diagnosis is demonstration of deficient TPP1 enzyme activity (in leukocytes, fibroblasts, or dried blood spots) and the identification of causative mutations in each allele of the TPP1/CLN2 gene. When it is not possible to perform both analyses, either demonstration of a) deficient TPP1 enzyme activity in leukocytes or fibroblasts, or b) detection of two pathogenic mutations in trans is diagnostic for CLN2 disease

Global Analysis of Proline-Rich Tandem Repeat Proteins Reveals Broad Phylogenetic Diversity in Plant Secretomes

Cell walls, constructed by precisely choreographed changes in the plant secretome, play critical roles in plant cell physiology and development. Along with structural polysaccharides, secreted proline-rich Tandem Repeat Proteins (TRPs) are important for cell wall function, yet the evolutionary diversity of these structural TRPs remains virtually unexplored. Using a systems-level computational approach to analyze taxonomically diverse plant sequence data, we identified 31 distinct Pro-rich TRP classes targeted for secretion. This analysis expands upon the known phylogenetic diversity of extensins, the most widely studied class of wall structural proteins, and demonstrates that extensins evolved before plant vascularization. Our results also show that most Pro-rich TRP classes have unexpectedly restricted evolutionary distributions, revealing considerable differences in plant secretome signatures that define unexplored diversity

Ultramafic vegetation and soils in the circumboreal region of the Northern Hemisphere

The paper summarizes literature on climate, soil chemistry, vegetation and metal accumulation by plants found on ultramafic substrata in the circumboreal zone (sensu Takhtajan, Floristic regions of the world, 1986) of the Northern Hemisphere. We present a list of 50 endemic species and 18 ecotypes obligate to ultramafic soils from the circumboreal region of Holarctic, as well as 30 and 2 species of Ni and Zn hyperaccumulators, respectively. The number of both endemics and hyperaccumulators are markedly lower compared to that of the Mediterranean and tropical regions. The diversity of plant communities on ultramafics soils of the circumboral region is also described. The underlying causes for the differences of ultramafic flora between arctic, cold, cool temperate and Mediterranean and tropical regions are also discussed. © 2018, The Ecological Society of Japan

Prevalence of Obesity and Metabolic Syndrome in Adult Population of Selected Regions of the Czech Republic. Relation to Eating Habits and Smoking

Prevalence of the metabolic syndrome is around 25% in Europe but its occurrence grows in both genders with increasing age and weight. Lifestyle factors may contribute to the risk of developing metabolic syndrome. The objective of this study was to determine the relationship between metabolic syndrome and eating habits as well as length of sleep and smoking. Participants (519 women and 286 men aged 18–65 years) were chosen by random selection and questioned about their eating habits, sleep length and smoking. This information was combined with anthropometric and clinical parameters of metabolic syndrome. The female group was divided into two subgroups depending on climacteric stage (before and after menopause). Metabolic syndrome prevalence does not differ between regions in neither female (29.9%) nor male (32.5%) group. Body mass index ≥25 was detected in 50.4% of all women and 65.7% of men; 23.5% of all women and 21.7% men had body mass index ≥30. In conclusion, metabolic syndrome prevalence was proved to depend on eating habits and family heredity. Positive correlation between the above mentioned factors demonstrated itself in the total sample but not in individual regions. Metabolic syndrome prevalence in Czech adults is comparable with neighbouring countries. No significant interregional differences in metabolic syndrome prevalence within the Czech Republic were detected. In conclusion, relationship between eating habits and metabolic syndrome was confirmed

Effects of additives on atmospheric pressure gliding arc applied to themodification of polypropylene

The polypropylene (PP) strips were modified with the industrial gliding arc discharge working in airflow at50 Hz. The experiments aimed at increased wettability and improved strength of the epoxy adhesive DP190 bondwith PP. While working only in dry air, the deterioration of the plasma treatment uniformity was observed athigher treatment speeds than 100 mm/s. At the same time, the tensile strength of the adhesive bond and theatomic concentrations of O and N decreased whereas the water contact angle (WCA) measurement error in-creased. The fast camera measurements revealed that the PP surface was treated by the direct contact with activeplasmafilaments. The non-uniformity of the PP surface treatment for increased treatment speed can be explainedby taking into account the stochastic character of thefilament propagation direction and the characteristic timescales of the process.As an improvement of the gliding arc treatment technology a new geometry utilizing the gas crossflow wasproposed with the help of gas dynamic simulations. The addition of argon crossflow led to an improvement ofthe treatment uniformity and, for the optimized conditions, the measured tensile strength of the adhesive bondto PP was 6.5 times higher than for the untreated PP sample. The treatments with the crossflow of argon mixedwith water vapors and volatile organic compounds (VOCs), ethanol and isopropanol, did not increase the tensilestrength of the adhesive joint even though the wettability was higher for the mixtures with VOCs. Since theconcentration of functional groups measured by X-ray photoelectron spectroscopy was well correlated with thetensile strength of adhesive joints, WCA measurements cannot be used as the only parameter judging the successof the plasma treatment aimed at an improvement of adhesive joint strengt

First detection of a magnetic field in low-luminosity B[e] stars

We report the first detection of the magnetic field in a star of FS CMa type, a subgroup of objects characterized by the B[e] phenomenon. The split of magnetically sensitive lines in IRAS 17449+2320 determines the magnetic field modulus of 6.2 ± 0.2 kG. Spectral lines and their variability reveal the presence of a B-type spectrum and a hot continuum source in the visible. The hot source confirms GALEX UV photometry. Because there is a lack of spectral lines for the hot source in the visible, the spectral fitting gives only the lower temperature limit of the hot source, which is 50 000 K, and the upper limit for the B-type star of 11 100 K. The V∕R ratio of the Hα line shows quasiperiodic behavior on timescale of 800 days. We detected a strong red-shifted absorption in the wings of Balmer and O