A novel mutation in SACS gene in a family from southern Italy

A form of autosomal recessive spastic ataxia (ARSACS) has been described in the Charlevoix and Saguenay regions of Quebec. So far a frameshift and a nonsense mutation have been identified in the SACS gene. The authors report a new mutation (1859insC), leading to a frameshift with a premature termination of the gene product sacsin, in two sisters from consanguineous parents. The phenotype is similar to previously described patients with ARSACS

Differences in oral health status in elite athletes according to sport modalities

Oral health status may affect physical and sports performance. The purpose of this study was to assess the oral health status and oral health habits of elite athletes according to the performed sports type. A sample of 186 elite athletes divided into individual sports (n = 74; 53 men and 21 women; 24.9 ± 9.3 years) and team sports (n = 112; 97 men and 15 women; 24.5 ± 4.8 years) participated in the study. The decayed, missing, and filled teeth index (DMFT), the oral health impact profile (OHIP), and the diet assessment of caries risk (DACR) were evaluated to assess their oral health status. Athletes in individual modalities had a lower number in total teeth, healthy teeth, and restoration index (p < 0.05). Furthermore, this group showed a greater number of missing (p < 0.001) and decayed teeth (p < 0.05) and a greater DMFT index (p < 0.001). A relationship between sports modality and prevalence of malocclusions (p < 0.01), periodontal plaque (p < 0.05), and the habit of consuming energy drinks (p < 0.05) was also highlighted. Elite athletes who compete in individual sports presented a worse oral situation

Stable Polyglutamine Dimers Can Contain β-Hairpins with Interdigitated Side Chains But Not α-Helices, β-Nanotubes, β-Pseudohelices, or Steric Zippers

AbstractA common thread connecting nine fatal neurodegenerative protein aggregation diseases is an abnormally expanded polyglutamine tract found in the respective proteins. Although the structure of this tract in the large mature aggregates is increasingly well described, its structure in the small early aggregates remains largely unknown. As experimental evidence suggests that the most toxic species along the aggregation pathway are the small early ones, developing strategies to alleviate disease pathology calls for understanding the structure of polyglutamine peptides in the early stages of aggregation. Here, we present a criterion, grounded in available experimental data, that allows for using kinetic stability of dimers to assess whether a given polyglutamine conformer can be on the aggregation path. We then demonstrate that this criterion can be assessed using present-day molecular dynamics simulations. We find that although the α-helical conformer of polyglutamine is very stable, dimers of α-helices lack the kinetic stability necessary to support further oligomerization. Dimers of steric zipper, β-nanotube, and β-pseudohelix conformers are also too short-lived to initiate aggregation. The β-hairpin-containing conformers, instead, invariably form very stable dimers when their side chains are interdigitated. Combining these findings with the implications of recent solid-state NMR data on mature fibrils, we propose a possible pathway for the initial stages of polyglutamine aggregation, in which β-hairpin-containing conformers act as templates for fibril formation

Unidade desenvolve tecnologia para manejo e bem-estar animal.

Projeto:11.11.11.111

Application of Digital Terrain Model to volcanology

Three-dimensional reconstruction of the ground surface (Digital Terrain Model, DTM), derived by airborne GPS photogrammetric surveys, is a powerful tool for implementing morphological analysis in remote areas. High accurate 3D models, with submeter elevation accuracy, can be obtained by images acquired at photo scales between 1:5000-1:20000. Multitemporal DTMs acquired periodically over volcanic area allow the monitoring of areas interested by crustal deformations and the evaluation of mass balance when large instability phenomena or lava flows have occurred. The work described the results obtained from the analysis of photogrammetric data collected over the Vulcano Island from 1971 to 2001. The data, processed by means of the Digital Photogrammetry Workstation DPW 770, provided DTM with accuracy ranging between few centimeters to few decimeters depending on the geometric image resolution, terrain configuration and quality of photographs

Bioinformatics tools for marine biotechnology: A practical tutorial with a metagenomic approach

Background: Bioinformatics has pervaded all fields of biology and has become an indispensable tool for almost all research projects. Although teaching bioinformatics has been incorporated in all traditional life science curricula, practical hands-on experiences in tight combination with wet-lab experiments are needed to motivate students. Results: We present a tutorial that starts from a practical problem: finding novel enzymes from marine environments. First, we introduce the idea of metagenomics, a recent approach that extends biotechnology to non-culturable microbes. We presuppose that a probe for the screening of metagenomic cosmid library is needed. The students start from the chemical structure of the substrate that should be acted on by the novel enzyme and end with the sequence of the probe. To attain their goal, they discover databases such as BRENDA and programs such as BLAST and Clustal Omega. Students' answers to a satisfaction questionnaire show that a multistep tutorial integrated into a research wet-lab project is preferable to conventional lectures illustrating bioinformatics tools. Conclusion: Experimental biologists can better operate basic bioinformatics if a problem-solving approach is chosen

Congenital disorders of glycosylation: narration of a story through its patents

Congenital disorders of glycosylation are a group of more than 160 rare genetic defects in protein and lipid glycosylation. Since the first clinical report in 1980 of PMM2-CDG, the most common CDG worldwide, research made great strides, but nearly all of them are still missing a cure. CDG diagnosis has been at a rapid pace since the introduction of whole-exome/whole-genome sequencing as a diagnostic tool. Here, we retrace the history of CDG by analyzing all the patents associated with the topic. To this end, we explored the Espacenet database, extracted a list of patents, and then divided them into three major groups: (1) Drugs/therapeutic approaches for CDG, (2) Drug delivery tools for CDG, (3) Diagnostic tools for CDG. Despite the enormous scientific progress experienced in the last 30 years, diagnostic tools, drugs, and biomarkers are still urgently needed

Tear production, intraocular pressure, ultrasound biometric features and conjunctival flora identification in clinically normal eyes of two italian breeds of chicken (Gallus gallus domesticus)

Given the abundance of chickens in Italy, it is important for veterinarians to know the normal state of chickens’ eyes in order to identify any ophthalmic pathological changes. The aim of this study was to determine the normal values of select ocular parameters and to evaluate conjunctival microflora in two Italian chicken breeds. Sixty-six healthy chickens underwent a complete ophthalmic examination, which included a phenol red thread test (PRTT) for the evaluation of tear production and the assessment of intraocular pressure by rebound tonometry. B-mode ultrasound biometric measurements and conjunctival microflora identification were also performed in twenty-seven chickens. Mean PRTT was 23.77 ± 2.99 mm/15 s in the Livorno breed and 19.95 ± 2.81 mm/15 s in the Siciliana breed. Mean intraocular pressure was 14.3 ± 1.17 mmHg in the Livorno breed and 14.06 ± 1.15 mmHg in the Siciliana breed. Reference ranges for morphometric parameters were reported in the two breeds. Twenty-three chickens (85.18%) were bacteriologically positive. Chlamydia spp. antigen was detected in 14.81% of chickens. No positive cultures were obtained for fungi. Normal reference range values for selected ophthalmic parameters were obtained in clinically healthy chickens, which could facilitate accurate diagnosis and better management of ophthalmic diseases in these animals