Clinical, polysomnographic and genome-wide association analyses of narcolepsy with cataplexy: a European Narcolepsy Network study.

The aim of this study was to describe the clinical and PSG characteristics of narcolepsy with cataplexy and their genetic predisposition by using the retrospective patient database of the European Narcolepsy Network (EU-NN). We have analysed retrospective data of 1099 patients with narcolepsy diagnosed according to International Classification of Sleep Disorders-2. Demographic and clinical characteristics, polysomnography and multiple sleep latency test data, hypocretin-1 levels, and genome-wide genotypes were available. We found a significantly lower age at sleepiness onset (men versus women: 23.74 ± 12.43 versus 21.49 ± 11.83, P = 0.003) and longer diagnostic delay in women (men versus women: 13.82 ± 13.79 versus 15.62 ± 14.94, P = 0.044). The mean diagnostic delay was 14.63 ± 14.31 years, and longer delay was associated with higher body mass index. The best predictors of short diagnostic delay were young age at diagnosis, cataplexy as the first symptom and higher frequency of cataplexy attacks. The mean multiple sleep latency negatively correlated with Epworth Sleepiness Scale (ESS) and with the number of sleep-onset rapid eye movement periods (SOREMPs), but none of the polysomnographic variables was associated with subjective or objective measures of sleepiness. Variant rs2859998 in UBXN2B gene showed a strong association (P = 1.28E-07) with the age at onset of excessive daytime sleepiness, and rs12425451 near the transcription factor TEAD4 (P = 1.97E-07) with the age at onset of cataplexy. Altogether, our results indicate that the diagnostic delay remains extremely long, age and gender substantially affect symptoms, and that a genetic predisposition affects the age at onset of symptoms.

Correlation between the infestation level of Sitophilus zeamais Motschulsky, 1855 (Coleoptera, Curculionidae) and the quality factors of stored corn, Zea mays L. (Poaceae)

This experiment was carried out in order to evaluate the effect of Sitophilus zeamais on physical, physiological and sanitary quality of stored corn. Samples of 500 g of the hybrid OC-705, in three replicates, were conditioned in glasses covered with a screened lid, and kept in chamber at 25±2ºC, 70±5% RH and 12 h of photophase, for 150 days. The infestation levels were 0, 5, 15 and 50 adults/replicate, for the storage periods of 30, 60, 90, 120 and 150 days. The moisture content, classification, weight loss, germination and internal infestation were evaluated monthly. Significant inverse correlations were verified between the number of insects and both the germination and the weight loss; also between the internal infestation and the germination and the standard type. The presence of S. zeamais showed a positive correlation with the weight loss, what means that the internal and external infestations contribute to the reduction of physiological and physical quality of corn seeds. The mean dry matter loss was 0,36%/day, corresponding to a consumption of 0,0001%/insect/month. As the result of those damages, the product suffered reduction of the commercial grade in 30 days, with significant loss in all quality factors.

A new way of quantifying dominant upper-limb mobility in healthy and painful shoulders

Introduction: Quantification of daily upper-limb activity is determinant in the evaluation of shoulder surgery. For a number of shoulder diseases, roblems in performing daily activities have been expressed in terms of upper-limb usage. Althought many instruments measure upper-limb movements, there is no accepted standard or widely used objective measure and no device to differenciate left or right shoulder usage. We present an objective method to measure the mobility and quantify the usage of dominant and healthy or painfull shoulder movement during daily life. Methods: 12 patients with unilateral pathological shoulder (rotator cuff disease) are compared to 18 control subjects (10 right and 8 left handed). Both SST and DASH questionnaires were completed by each one. Three inertial miniature modules including triaxial gyroscopes and accelerometers were fixed on the dorsal side of both humerus, and on the thorax. An ambulatory datalogger have recorded the signals during one day. Results: We observed that right handed healthy subjects used 18% and 26% more their dominant shoulder during respectively stand and sit postures while left handed subjects used 8% and 18% more their left side. In walking periods, shoulder mobility was quite alike for both sides. Patients affected on their dominant arm (PD group) mostly used their non-dominant side (respectively 5% and 9% during stand and sit). For the patients affected on their non-dominant shoulder (PND group), this difference is respectively 28% and 26%. Moreover, we can note that, during walking periods, a difference can be observed (on the contrary to controls). Patients used 13% and 15% more their nonpathologic side respectively for PD and PND groups. Conclusion: Inertial sensors, during long-term ambulatory monitoring of upper limbs, can quantify the difference between dominant and nondominant sides. Patients used more their non affected shoulder during daily life. For the PD group, the difference with control can be shown during walking. These results are very encouraging for future evaluation of patients with shoulder injuries since it can provide an objective evaluation of the shoulder mobility and of the treatment outcome during daily life.

Evaluation of oviposition traps as an entomological surveillance method for Aedes aegypti (Diptera, Culicidae)

This study aimed to describe the behavior of oviposition traps for Aedes aegypti over time, to compare it with the larval survey and to investigate the association with climatic variables. It was conducted in São José do Rio Preto city, São Paulo. Daily climatic data and fortnightly measurements for oviposition traps and larval infestation were collected from October 2003 to September 2004. Three different periods were identified in the behavior of oviposition traps' positivity and mean number of eggs: increase, plateau and decrease in values. These measurements followed the variation of climatic data from the first and third periods. High correlation was obtained between the positivity and the mean number of eggs. The oviposition traps showed higher capacity to detect the vector than did larval survey. It was observed that the first (October to December) and third (May to September) periods were considered to be the most suitable to use oviposition traps than larval surveys.

Reproduction and fertility life table of three aphid species (Macrosiphini) at different temperatures

Temperature is a key abiotic factor influencing the development and reproduction of aphids. The effect of temperature on the reproduction of three aphid species Aulacorthum solani (Kaltenbach), Macrosiphum euphorbiae (Thomas) and Uroleucon ambrosiae (Thomas) (Aphididae, Macrosiphini) has been investigated and fertility life tables were determined. Nymphs were reared in climatic chambers at temperatures of 16, 19, 22, 25, and 28 ± 1ºC, RH 70 ± 10% and 12 h photophase. Female adult aphids developed at these temperatures were then used in experiments in which pre-reproductive and reproductive periods were evaluated every 24 h. In addition, the number of nymphs produced and longevity were determined at each temperature. The reproduction period of A. solani and M. euphorbiae decreased with increasing temperature, whereas that of U. ambrosiae was maintained between 19 and 25ºC. The total number of nymphs produced by the aphids decreased as the temperature increased. The longevities of A. solani and M. euphorbiae decreased with increasing temperature but remained stable for U. ambrosiae between 19 and 25ºC. The largest survival rate (l x) and specific fertility (m x) values were found at 16 and 22ºC for all three species. The most favourable temperature for reproduction of A. solani, M. euphorbiae and U. ambrosiae was 22ºC, as demonstrated by the l x and m x profiles, the high values of net reproductive rates and intrinsic rates of increase, and the short intervals between generation and doubling times.

Temporal distribution of Aedes aegypti Linnaeus (Diptera, Culicidae), in a Hospital in Cuiabá, State of Mato Grosso, Brazil

This study aimed at registering and monitoring the presence of Aedes aegypti in the University Hospital Júlio Muller, Cuiabá-MT, as well as investigating the influence of temperature and rainfall on its temporal distribution and egg densities in ovitraps. The study was performed from April/2007 to March/2008, utilizing ovitraps with 10% of hay infusion and a wood paddle as an oviposition substrate. For surveillance, one ovitrap was placed in each of the 12 points distributed throughout the hospital. Ovitraps were collected monthly at the end of a 5-day installation period. After egg counting, wood paddles were immersed in water to allow larval eclosion for species identification through optical microscopy. Egg Density Index (EDI), Positive Ovitraps Index (POI), and Mean Number of Eggs (MNE) were used for data analysis. The presence of A. aegypti in the hospital was registered throughout the study period, except in July. The MNE was proportionally higher in the internal area (n= 8.47 eggs/paddle) when compared to the external area (n= 5.46 eggs/paddle), and was higher in September/October 2007 and January/February 2008. A significant increase in EDI, POI and MNE was registered in periods where the average temperature was higher, and the increase in POI was also concomitant with an increase in rainfall. The continuous presence of A. aegypti in the hospital throughout the study period, points out the need of including this mosquito in the arthropod control list in this environment. This is particularly important, considering that A. aegypti is an important vector of several arboviroses.

Arthropods associated with pig carrion in two vegetation profiles of Cerrado in the State of Minas Gerais, Brazil

Forensic Entomology research has been concentrated in only a few localities of the "Cerrado" vegetation, the Brazilian Savannah. The present study had, as its objective, an examination of the diversity of arthropod fauna associated with the carcasses of Sus scrofa (Linnaeus) in this biome. The study was conducted during the dry and humid periods in two Cerrado vegetation profiles of the State of Minas Gerais. The decaying process was slower and greater quantities of arthropods were collected during the dry period. Insects represented 99% of 161,116 arthropods collected. The majority of these were Diptera (80.2%) and Coleoptera (8.8%). The entomofauna belong to 85 families and at least 212 species. Diptera were represented by 31 families and at least 132 species. Sarcophagidae (Diptera) and Scarabaeidae (Coleoptera) were the richest groups. Oxysarcodexia (Sarcophagidae) presented the largest number of attracted species, however none of these species bred in the carcasses. The Coleoptera collected belong to at least 50 species of 21 families. Among these species, Dermestes maculatus and Necrobia rufipes were observed breeding in the carcasses. This study showed species with potential importance for estimating the postmortem interval (PMI), indicative of seasonal and environmental type located.

Phylogeography of Mabuya maculilabris (Reptilia) from São Tomé Island (Gulf of Guinea) inferred from mtDNA sequences

The pattern of genetic variation of the lizard Mabuya maculilabris from São Tomé Island (Gulf of Guinea) was investigated using a combination of three mitochondrial DNA gene fragments. Forty-eight haplotypes were recovered among 66 individuals covering the whole island. The genealogy inferred from the most parsimonious network of haplotypes allows us to detect two main and long branches departing from the putative group of oldest haplotypes. The tips of these branches exhibit star-like phylogenies, which may indicate of recently expanded populations, most probably from a small number of founders. A nested clade analysis suggests a complex pattern of past events that gave rise to the extant geographical pattern found in the haplotype distribution: past and allopatric fragmentation, range expansion, restricted gene Xow and long-distance dispersal. These results are consistent with the complex geological history of the island where important volcanic activity with extensive lava Xows has occurred during several periods. Mismatch- distribution analysis and AMOVA also support these conclusions. Substantial genetic structuring among these lizards was detected as well as high levels of diVerentiation between the southern edge populations (particularly those from the Rolas Islet) and the remaining ones. However, variation is low relative to the geological age of the island. Our results indicate that patterns of variation observed in reptiles in other oceanic islands are not indicative of those observed in the islands of the Gulf of Guinea.

A community survey of sun exposure, sunburn and sun protection.

AIM: To describe outdoor activities, sun protection behaviours and the experience of sunburn in a sample of New Zealanders during summer weekends of 1994. METHODS: 1243 respondents to a telephone survey provided information regarding their outdoor activities for the 5 hour period around midday of the previous Saturday and Sunday. The sample was drawn from those aged 15 to 65 years in the five centres of Auckland, Hamilton, Wellington, Christchurch and Dunedin. Respondents provided information on sun exposure, sunburn, sun protection and beliefs about tanning, as well as background demographic information, skin type and previous experience of sunburn. RESULTS: 12% of the sample (or 17% of all those outdoors) reported being sunburned on the preceding weekend, and those sunburned tended to be men, and to be under age 35 years. The face, neck and limbs were the areas most frequently reported as burned. Sporting activities and beach or water activities were associated with the highest number of episodes of burning. Overall 38% of those outside reported wearing a hat and 32% reported the use of a sunscreen. Positive attitudes to tanning were quite common and probably present the main target for change in the community. CONCLUSION: On any sunny weekend in summer about three-quarters of adult New Zealanders will be out in the sun for relatively long periods of time, and many will get sunburned. The reduction of such harmful sun exposures remains an important public health goal.

Biological aspects of Leucothyreus alvarengai Frey and Leucothyreus aff. semipruinosus Ohaus (Coleoptera, Melolonthidae, Rutelinae) in crop succession at central Brazil

Biological aspects of Leucothyreus alvarengai Frey and Leucothyreus aff. semipruinosus Ohaus (Coleoptera, Melolonthidae, Rutelinae) in crop succession at central Brazil. Beetles of the family Melolonthidae make up a large group and some species are considered pests of planted crops. Little information is available on the basic biological aspects of the genus Leucothyreus, such as association with cultivated crops and their occurrence periods. Therefore studies were developed in soybean and corn crops in Tangará da Serra, Mato Grosso, Brazil, with the objective of studying the occurrence and biological aspects of Leucothyreus alvarengai Frey and Leucothyreus aff. semipruinosus Ohaus. For acquisition of immature specimens of both species, in April 2011 sampling was performed in corn fields, in July and October in the fallow area, and in soybeans fields planted in December; in 2012 sampling was performed in January and February in soybean fields and in March in corn fields. In 2011 the total number of larvae obtained in April, July, October and December were 100, 6, 30 and 27, and in January, February and March of 2012 these quantities were 32, 52 and 65 larvae, respectively. In all sampling events the larvae of L. alvarengai were collected in greater quantity. At the beginning of the reproductive period of L. alvarengai and L. aff. semipruinosus, it was observed that the adults began to fly and soon after started oviposition in the field in September. The appearance of larvae coincides with the time of soybean planting in the field, thus the larvae feed on roots of soybean plants at the beginning of their development and the cycle from egg to adult of the two species was completed in one year.

Biotic potential and reproductive parameters of Spodoptera eridania (Stoll) (Lepidoptera, Noctuidae) in the laboratory

Biotic potential and reprodutcive parameters of Spodoptera eridania (Stoll) (Lepidoptera, Noctuidae) in the laboratory: This study aimed to evaluate the biotic potential and reproductive parameters of Spodoptera eridania (Stoll, 1782) under controlled conditions (25 ± 1ºC, 70 ± 10% RH and 14 hour photophase). The longevity, pre-, post- and oviposition periods, fecundity and fertility of 15 couples was evaluated. The longevity of females (10.80 days) was not significantly higher than those of males (9.27 days). The mean durations of the pre, post and oviposition periods were 2.067, 0.600 and 8.133 days, respectively. The mean fecundity per female was 1,398 eggs and the mean fertility was 1,367.50 larvae. On average, females copulated 1.133 times. A strong positive correlation was observed between the number of mating and fecundity (r = 0.881, P <0.001). However a strong negative correlation was observed between the number of copulations and the duration of the pre-oviposition period (r = -0.826, P = 0.002) and longevity (r = -0.823, P = 0.001). The biotic potential of S. eridania was estimated at 1.894 x 10(25) individuals/female/year. The net reproductive rate (Ro) was 560.531 times per generation and the mean generation time (T) was 35.807 days. The intrinsic rate of increase (rm) was 0.177, with a finite rate of increase (l) of 1.193, per week

Population growth and within-plant distribution of the striped mealybug Ferrisia virgata (Cockerell) (Hemiptera, Pseudococcidae) on cotton

Population growth and within-plant distribution of the striped mealybug Ferrisia virgata (Cockerell) (Hemiptera, Pseudococcidae) on cotton. The striped mealybug, Ferrisia virgata (Cockerell) (Hemiptera, Pseudococcidae), is a widely distributed and polyphagous pest species, which naturally occurs on cotton plants in Brazil. This study evaluated the establishment and population growth as well as the within-plant distribution of F. virgata on four cotton cultivars: CNPA 7H (white fibers), BRS Verde, BRS Safira, and BRS Rubi (colored fibers). The experiment was conducted in a complete randomized design with four treatments (cultivars) and 18 replications of each. Thus, cotton plants of each cultivar were infested with 100 newly hatched nymphs of F. virgata. The number of adult female mealybugs and the total number of mealybugs per plant were quantified, respectively, at 25 and 50 days after infestation. The developmental and pre-reproductive periods were also determined. Furthermore, we verified the distribution of F. virgata on the plant parts at 25 and 50 days after infestation. Ferrisia virgata showed similar growth of 412-fold in the four cotton cultivars studied. Also, the nymphs were spread on infested leaves; the secondgeneration nymphs were spread and established in all plant parts. Our results characterize F. virgata as having much potential as an important cotton pest in Brazil.

Mutilations génitales féminines: l'adolescente en quête de réponses [Female genital mutilation: need for answers at the age of adolescence]

En Suisse, le nombre de filles et de femmes migrantes excisées au cours de leur enfance dans leur pays d'origine ou menacées de mutilations génitales rituelles est estimé à 6-7000. Les professionnels de la santé en tant qu'interlocuteurs privilégiés doivent donc être en mesure de répondre aux questions y relatives, non seulement durant l'adolescence, mais aussi dans toutes les phases de la vie. L'absence d'information ou de transmission par des aînées aussi bien avant l'excision qu'au moment de la maturité sexuelle en fait souvent un événement biographique traumatisant. Arrivées en Suisse, le décalage entre les attentes socioculturelles et familiales et le vécu individuel, influencé par le pays d'accueil, peut s'avérer particulièrement difficile à vivre pour les jeunes filles concernées. In Switzerland, the estimated number of survivors after traditional female genital mutilation in the country of origin or girls and adult women at risk is 6-7000. Health professionals must be able to respond adequately to their questions not only during adolescence but through out the different periods of life. The lack of information or transmission by the seniors as well before the excision as at the time of sexual maturity contributes in a large measure to the frequent biographic trauma. It can be very difficult for the girls to deal with the gap between socio cultural and family expectations and their individual life experience in Switzerland.

Integrated Analysis of High-Resolution Gene Expression and Copy Number Profiling Identified Biallelic Deletion of CDKN2A/2B Tumor Suppressor Locus As the Most Frequent and Unique Genomic Abnormality in Diffuse Large B-Cell Lymphoma (DLBCL) with Strong Prognostic Value in Both GCB and ABC Subtypes and Not Overcome by a Dose-Intensive Immunochemotherapy Regimen Plus Rituximab. Results of a Prospective GELA Clinical Trial Program

Background and aim of the study: Genomic gains and losses play a crucial role in the development and progression of DLBCL and are closely related to gene expression profiles (GEP), including the germinal center B-cell like (GCB) and activated B-cell like (ABC) cell of origin (COO) molecular signatures. To identify new oncogenes or tumor suppressor genes (TSG) involved in DLBCL pathogenesis and to determine their prognostic values, an integrated analysis of high-resolution gene expression and copy number profiling was performed. Patients and methods: Two hundred and eight adult patients with de novo CD20+ DLBCL enrolled in the prospective multicentric randomized LNH-03 GELA trials (LNH03-1B, -2B, -3B, 39B, -5B, -6B, -7B) with available frozen tumour samples, centralized reviewing and adequate DNA/RNA quality were selected. 116 patients were treated by Rituximab(R)-CHOP/R-miniCHOP and 92 patients were treated by the high dose (R)-ACVBP regimen dedicated to patients younger than 60 years (y) in frontline. Tumour samples were simultaneously analysed by high resolution comparative genomic hybridization (CGH, Agilent, 144K) and gene expression arrays (Affymetrix, U133+2). Minimal common regions (MCR), as defined by segments that affect the same chromosomal region in different cases, were delineated. Gene expression and MCR data sets were merged using Gene expression and dosage integrator algorithm (GEDI, Lenz et al. PNAS 2008) to identify new potential driver genes. Results: A total of 1363 recurrent (defined by a penetrance > 5%) MCRs within the DLBCL data set, ranging in size from 386 bp, affecting a single gene, to more than 24 Mb were identified by CGH. Of these MCRs, 756 (55%) showed a significant association with gene expression: 396 (59%) gains, 354 (52%) single-copy deletions, and 6 (67%) homozygous deletions. By this integrated approach, in addition to previously reported genes (CDKN2A/2B, PTEN, DLEU2, TNFAIP3, B2M, CD58, TNFRSF14, FOXP1, REL...), several genes targeted by gene copy abnormalities with a dosage effect and potential physiopathological impact were identified, including genes with TSG activity involved in cell cycle (HACE1, CDKN2C) immune response (CD68, CD177, CD70, TNFSF9, IRAK2), DNA integrity (XRCC2, BRCA1, NCOR1, NF1, FHIT) or oncogenic functions (CD79b, PTPRT, MALT1, AUTS2, MCL1, PTTG1...) with distinct distribution according to COO signature. The CDKN2A/2B tumor suppressor locus (9p21) was deleted homozygously in 27% of cases and hemizygously in 9% of cases. Biallelic loss was observed in 49% of ABC DLBCL and in 10% of GCB DLBCL. This deletion was strongly correlated to age and associated to a limited number of additional genetic abnormalities including trisomy 3, 18 and short gains/losses of Chr. 1, 2, 19 regions (FDR < 0.01), allowing to identify genes that may have synergistic effects with CDKN2A/2B inactivation. With a median follow-up of 42.9 months, only CDKN2A/2B biallelic deletion strongly correlates (FDR p.value < 0.01) to a poor outcome in the entire cohort (4y PFS = 44% [32-61] respectively vs. 74% [66-82] for patients in germline configuration; 4y OS = 53% [39-72] vs 83% [76-90]). In a Cox proportional hazard prediction of the PFS, CDKN2A/2B deletion remains predictive (HR = 1.9 [1.1-3.2], p = 0.02) when combined with IPI (HR = 2.4 [1.4-4.1], p = 0.001) and GCB status (HR = 1.3 [0.8-2.3], p = 0.31). This difference remains predictive in the subgroup of patients treated by R-CHOP (4y PFS = 43% [29-63] vs. 66% [55-78], p=0.02), in patients treated by R-ACVBP (4y PFS = 49% [28-84] vs. 83% [74-92], p=0.003), and in GCB (4y PFS = 50% [27-93] vs. 81% [73-90], p=0.02), or ABC/unclassified (5y PFS = 42% [28-61] vs. 67% [55-82] p = 0.009) molecular subtypes (Figure 1). Conclusion: We report for the first time an integrated genetic analysis of a large cohort of DLBCL patients included in a prospective multicentric clinical trial program allowing identifying new potential driver genes with pathogenic impact. However CDKN2A/2B deletion constitutes the strongest and unique prognostic factor of chemoresistance to R-CHOP, regardless the COO signature, which is not overcome by a more intensified immunochemotherapy. Patients displaying this frequent genomic abnormality warrant new and dedicated therapeutic approaches.

Period-Luminosity-Colour distribution and classification of Galactic oxygen-rich LPVs I. Luminosity calibrations

The absolute K magnitudes and kinematic parameters of about 350 oxygen-rich Long-Period Variable stars are calibrated, by means of an up-to-date maximum-likelihood method, using HIPPARCOS parallaxes and proper motions together with radial velocities and, as additional data, periods and V-K colour indices. Four groups, differing by their kinematics and mean magnitudes, are found. For each of them, we also obtain the distributions of magnitude, period and de-reddened colour of the base population, as well as de-biased period-luminosity-colour relations and their two-dimensional projections. The SRa semiregulars do not seem to constitute a separate class of LPVs. The SRb appear to belong to two populations of different ages. In a PL diagram, they constitute two evolutionary sequences towards the Mira stage. The Miras of the disk appear to pulsate on a lower-order mode. The slopes of their de-biased PL and PC relations are found to be very different from the ones of the Oxygen Miras of the LMC. This suggests that a significant number of so-called Miras of the LMC are misclassified. This also suggests that the Miras of the LMC do not constitute a homogeneous group, but include a significant proportion of metal-deficient stars, suggesting a relatively smooth star formation history. As a consequence, one may not trivially transpose the LMC period-luminosity relation from one galaxy to the other.