Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome.

Gray platelet syndrome (GPS) is a predominantly recessive platelet disorder that is characterized by mild thrombocytopenia with large platelets and a paucity of α-granules; these abnormalities cause mostly moderate but in rare cases severe bleeding. We sequenced the exomes of four unrelated individuals and identified NBEAL2 as the causative gene; it has no previously known function but is a member of a gene family that is involved in granule development. Silencing of nbeal2 in zebrafish abrogated thrombocyte formation

Machine learning for molecular and materials science

Here we summarize recent progress in machine learning for the chemical sciences. We outline machine-learning techniques that are suitable for addressing research questions in this domain, as well as future directions for the field. We envisage a future in which the design, synthesis, characterization and application of molecules and materials is accelerated by artificial intelligence.</p

Handgrip strength and 1RM bench press performance: a novel approach to evaluate upper body maximal strength

In the last few years, handgrip strength has been widely recognized as a relevant indicator of physical function, nutritional status and quality of life in a clinical population. However, the scientific literature is still lacking of knowledge regarding the use of this indicator within a general healthy and physically active population. The possibility to use the handgrip strength as an indicative value of some specific physical qualities, such as the upper body maximal strength (expressed in terms of 1RM bench press), can be considered an unexplored field and its development might represent a relevant support for the strength and conditioning professionals. Therefore, we hypothesize that a significant association might be found between handgrip strength, body composition and upper body maximal strength and that this association might be used as a specific “performance predictor”. Fifteen healthy subjects (8 men / 7 women; age 25.53 ± 7.14 yr;! body mass 65.58 ± 13.26 kg; height 167±10 cm) without habitual intensive exercise participated in this pilot intervention. Body composition, handgrip strength and maximal body upper strength were evaluated. Subjects’ body composition was estimated through a bioelectrical impedance analysis and resulted in a mean value of 22.12 ± 8.64% of fat and 77.81 ± 8.5%1 of lean mass. Handgrip (HG) strength was estimated for both dominant and not dominant side, respectively (39.27 ± 14.52 w; 37.59 ± 13.49 w) through the use of a handgrip dynamometer. Subjects’ upper body strength was tested using a bench press 1RM test with an already standardized protocol. Subjects’ maximal strength resulted in an average of 49.21 ± 23.87 kg. HG and 1RM testing were overseen by the same investigator and conducted with the same equipment. Each subject was instructed to refrain from any strenuous activities for 72 hours before testing d! ay. STATISTICA Software package© for Windows© was adopted wh en appropriate. Overall the findings showed a strong relation (Pearson’s r=0.77) between HG and 1RM bench press in both, male (0.41) and female (0.80) but a low association with Free Fat Mass. Unexpectedly, female have higher association than males. These preliminary results shown that the handgrip strength might be associated to the individual maximal strength performance and it might be considered as a valid predictor of upper body strength performance within a sport/fitness context, though the presented pilot intervention we cannot draw any conclusion on the topic, due to the limited sample analyzed

A web-based surveillance system on adolescents\u2019 lifestyles and obesity prevention: ASSO-FTB preliminary findings. The ASSO Project

In a context where obesity represents a cause of concern in childhood and where there is a lack of standardized data collection systems, ASSO Project (Adolescents and Surveillance System for Obesity prevention), financed by the Italian Ministry of Health, aims to develop a surveillance system structured on adolescents lifestyles. It is a prospective study with online data collection, simultaneous descriptive data analysis and real time report. The ASSO-Toolkit is made of questionnaires, forms and a fitness test battery: ASSO-PIQ (Personal Information Questionnaire);ASSO-PASAQ (Physical Activity, Smoke, Alcohol, Questionnaire); ASSO- FHQ (Food Habits Questionnaire); ASSO-FFQ (Food Frequency Questionnaire); ASSO-BFMF (Body and Fitness Measures Form); ASSO- FTB (Fitness Tests Battery). The aims of this study is to evaluate the predictive validity, the criterion validity and the reliability of ASSOFTB, in other words to assess how well the system operates to meet its obje! ctives. The ASSO-FTB consists of 20mSRT (Shuttle Run Test) to estimate cardiorespiratory fitness, the handgrip strength test and the standing broad jump to assess musculoskeletal fitness, the 4x10mSRT to assess motor fitness and last but not least the sit up test to estimate muscle endurance. Forty male adolescents (17,32 \ub1 1,0 yrs; 175,3 \ub1 6,0 cm; 72,4 \ub1 14,7 kg; waist circ. 86,2 \ub1 12,4 cm) attending the same secondary school, voluntarily participated to the pilot study. In a school setting, the already standardised procedures were administered by the ASSO-FTB specialist in collaboration with the (PE) teacher. All data collected were updated through the already existing website (www.assoproject.info) and codified by the dedicated ASSO-FTB server. All equipments adopted were selected according to the previous publications (HELENA Study, AVENA Study, FITNESSGRAM and ALPHA Study). Data were analyzed using STATISTICA software, two-tail paired t test, ! two-tail Unpaired t test and Pearson correlation were used when appropriate. Participants were significantly higher in BMI compared to data published by Espana-Romeo et al in 2010. As expected, the maximal isometric strength showed no differences between dx (35,07\ub17,3 kg) and sx (35,8\ub14,8 kg) handgrips respectively. The standing broad jump (178,07 \ub1 26,9 cm) has evinced less distance than Espana-Romeo study (183,4 \ub1 32,75), p = 0,37. The sit-up test reported a mean value of 44,9 \ub1 32,8 reps. On the whole findings show that there is a correlation between handgrip and standing broad jump (r = 0.7), underlining that this last test is better indicative of the upper and lower body muscular strength. The trial showed that the FTB-system was structurally simple, low cost, reliable and well accepted by the key partners. At this stage ASSOFTB seems to be able to meet scientific standards. More studies are necessary for the ASSO-toolkit validation. Preliminary results are very encouraging

The relationship between type 2 diabetes family history, body composition and blood basal glycemia in sedentary people.

none8noneBianco A;Pomara F;Raccuglia M;Bellafiore M;Battaglia G;Filingeri D;Paoli A;Palma ABianco, A; Pomara, F; Raccuglia, M; Bellafiore, M; Battaglia, G; Filingeri, D; Paoli, Antonio; Palma, A

Presynaptic GABA Receptors Mediate Temporal Contrast Enhancement in Drosophila Olfactory Sensory Neurons and Modulate Odor-Driven Behavioral Kinetics

Interior, view along the south edge of the wall, depicting the undulating wall; The MIT Chapel (dedicated 1955) is a non-denominational chapel. It is located on the campus of the Massachusetts Institute of Technology, next to Kresge Auditorium and Kresge Oval, which Saarinen also designed, in Cambridge, Massachusetts. Though a small building, it is often noted as a successful example of mid-Century modern architecture in the US. Saarinen also designed the landscaping surrounding all three. Leland Roth included the building in his History of American Architecture, using it to illustrate the contrast between Saarinen's approach and that of Mies (who designed a chapel for IIT). Roth said that "through the sheer manipulation of light and the its focus on a blazingly white marble altar block, Saarinen created a place of mystic quiet." The chapel's curving spire and bell tower was designed by the sculptor Theodore Roszak and was added in 1956. Source: Wikipedia; http://en.wikipedia.org/wiki/Main_Page (accessed 1/10/2008