Screening of ARHSP-TCC Patients Expands the Spectrum of SPG11 Mutations and Includes a Large Scale Gene Deletion

Autosomal recessive spastic paraplegia with thinning of corpus callosum (ARHSP-TCC) is a complex form of HSP initially described in Japan but subsequently reported to have a worldwide distribution with a particular high frequency in multiple families from the Mediterranean basin. We recently showed that ARHSP-TCC is commonly associated with mutations in SPG11/KIAA1840 on chromosome 15q. We have now screened a collection of new patients mainly originating from Italy and Brazil, in order to further ascertain the spectrum of mutations in SPG11, enlarge the ethnic origin of SPG11 patients, determine the relative frequency at the level of single Countries (i.e., Italy), and establish whether there is one or more common mutation. In 25 index cases we identified 32 mutations; 22 are novel, including 9 nonsense, 3 small deletions, 4 insertions, 1 in/del, 1 small duplication, 1 missense, 2 splice-site, and for the first time a large genomic rearrangement. This brings the total number of SPG11 mutated patients in the SPATAX collection to 111 cases in 44 families and in 17 isolated cases, from 16 Countries, all assessed using homogeneous clinical criteria. While expanding the spectrum of mutations in SPG11, this larger series also corroborated the notion that even within apparently homogeneous population a molecular diagnosis cannot be achieved without full gene sequencing. (C) 2008 Wiley-Liss, Inc.

Obsessive-compulsive disorder: Influence of age at onset on comorbidity patterns

Purpose. - This study investigates the influence of age at onset of OCS on psychiatric comorbidities, and tries to establish a cut-off point for age at onset. Methods. - Three hundred and thirty OCD patients were consecutively recruited and interviewed using the following structured interviews: Yale-Brown Obsessive Compulsive Scale; Yale Global Tic Severity Scale and the Structured Clinical Interview for DSM-IV. Data were analyzed with regression and cluster analysis. Results. - Lower age at onset was associated with a higher probability of having comorbidity with tic, anxiety, somatoform, eating and impulse-control disorders. Longer illness duration was associated with lower chance of having tics. Female gender was associated with anxiety, eating and impulse-control disorders. Tic disorders were associated with anxiety disorders and attention-deficit/hyperactivity disorder. No cutoff age at onset was found to clearly divide the sample in homogeneous subgroups. However, cluster analyses revealed that differences started to emerge at the age of 10 and were more pronounced at the age of 17, suggesting that these were the best cut-off points on this sample. Conclusions. - Age at onset is associated with specific comorbidity patterns in OCD patients. More prominent differences are obtained when analyzing age at onset as an absolute value. (C) 2008 Elsevier Masson SAS. All rights reserved.

Can France really stop them? : A study grounded on the realist perspective about the French foreign policy towards Syria as the root cause of the Phenomenon of French Foreign Fighters

During the Syrian conflict the number of European Foreign Fighters has increased exponentially and has become an ever-growing concern for European policymakers. This phenomenon presents host of major security challenges for European policymakers and governments. Among European countries, France provides the highest number of citizens who have gone to Syria to fight against Assad´s regime. The French authorities have estimated that by mid-2014, over 700 French citizens have left France and travelled to Syria to fight. Historically France has had a relationship with Syria which started with its role as a border-drawing colonial power. Grounded in a framework of realism, that emphasizes nation-states as the primary actor within the international system, the analysis concentrates on the role of France´s foreign policy on the Syria as push factor for terrorism and radicalization. This paper attempts to determinate a specific correlation between the policy that France has been conducting towards Syria between 2000 and 2015, and the phenomenon of French Foreign Fighters. Findings suggest that France´s foreign policy towards Syria is the main root cause of the French Foreign Fighters phenomenon.

Carl Maria von Weber’s Overture to Oberon: A History of Recorded Performance

My research examines the recorded performance history of the Overture to Weber’s Oberon in light of these aesthetic goals. I have charted changes in performance practice trends, including in timing, tempo fluctuation, rhythmic accuracy and ensemble, and the use of portamento. The twenty recordings studied that I surveyed span nearly seventy-five years, and include many of the 20th century’s most prominent conductors and orchestras, including groups from Communist Russia, both pre-World War II and post-World War II continental Europe, the British Isles, and the United States.8 Though by no means comprehensive, my selections encompass a diverse sampling of surviving recordings, ensuring a large enough sample size to reflect general trends in the performance of Weber’s masterpiece. My research and analysis confirms the conventional view of a move toward more accurate—but also more cautious, uniform, and inexpressive— performances. Surprisingly, however, this analysis also suggests that we are on the cusp of a new era in orchestra performance practice, one that shares many of the values of the earlier recorded performances. While maintaining today’s high standards of execution, modern performances now look to regain many of the past’s expressive qualities, doing so in sometimes surprising ways.

Cinema attendance during crises is there a relationship between cinema attendance and the state of the economy in France in the period 1992-2012?

O presente estudo teve como objetivo testar se a situação econômica teve um impacto sobre os hábitos de consumo de cinema na França, no período contemporâneo (1992-2012). O estudo aborda a relação entre indicadores econômicos e consumo de cinema em um nível agregado e, em seguida, analisa se os vários tipos de filmes, tipos de cinemas e categorias de cinéfilos foram mais ou menos foram afetados pelo estado da economia. No nível agregado, estudos semelhantes já foram realizados em outros países. Este estudo confirma os resultados para a França: como em outros países desenvolvidos, a situação da economia tem pouca influência no consumo de cinema e o setor é resiliente. Este trabalho também traz novas análises detalhadas sobre o comportamento de vários sub-tipos de filmes, segmentos de locais e categorias de consumidores. Ele demonstra que para a maior parte dessas sub-categorias, drivers do mercado são oferta e preço, e que a situação da economia tem pouca influência. Quanto ao tipo de cinema, o estudo argumenta que, comparativamente, cinemas grandes conseguem crescer durante o período de crise.

Quantitative and qualitative characteristics of the non-carcass components and the meat of lambs fed sunflower seeds and vitamin E

The objective of this investigation was to evaluate the weight and percentage of the non-carcass components and the mineral content (macro minerals and trace minerals), crude protein, ether extract, moisture and vitamin E of the heart, liver, tongue, lungs, reticulum, kidneys and meat from the longissimus dorsi of lambs in feedlot finishing. Thirty-two non-castrated Ile de France male lambs, fed diets containing sunflower seeds and vitamin E from 15 to 32 kg of body weight were allotted in a completely randomized design in a 2 × 2 factorial arrangement. The weight of the gastrointestinal tract was higher in the lambs fed diets containing vitamin E (10%). No difference was observed in the liver as to the mineral matter, crude protein, ether extract, moisture (2.01; 20.03; 2.39 and 74.78 g/100 g, respectively), the macro minerals and trace minerals, except iron. In the tongue, lungs, reticulum, kidneys and meat there was no in fluence of diets in the studied variables. The liver and the meat presented different values of crude protein (20.01 and 18.34 g/100 g, respectively), and the heart (1.03 mg/100 g) showed a higher content of vitamin E. High contents of manganese, zinc and copper were observed in the liver. The evaluated non-carcass components were nutritionally equal to the sheep meat, once, in addition to their high yield in relation to the body weight at slaughter, the non-carcass components are sources of nutrients.

Variability of the conserved V3 loop tip motif in HIV-1 subtype B isolates collected from Brazilian and French patients

The diversity of the V3 loop tip motif sequences of HIV-1 subtype B was analyzed in patients from Botucatu (Brazil) and Montpellier (France). Overall, 37 tetrameric tip motifs were identified, 28 and 17 of them being recognized in Brazilian and French patients, respectively. The GPGR (P) motif was predominant in French but not in Brazilian patients (53.5% vs 31.0%), whereas the GWGR (W) motif was frequent in Brazilian patients (23.0%) and absent in French patients. Three tip motif groups were considered: P, W, and non-P non-W groups. The distribution of HIV-1 isolates into the three groups was significantly different between isolates from Botucatu and from Montpellier (P < 0.001). A higher proportion of CXCR4-using HIV-1 (X4 variants) was observed in the non-P non-W group as compared with the P group (37.5% vs 19.1%), and no X4 variant was identified in the W group (P < 0.001). The higher proportion of X4 variants in the non-P non-W group was essentially observed among the patients from Montpellier, who have been infected with HIV-1 for a longer period of time than those from Botucatu. Among patients from Montpellier, CD4+ cell counts were lower in patients belonging to the non-P non-W group than in those belonging to the P group (24 cells/µL vs 197 cells/µL; P = 0.005). Taken together, the results suggest that variability of the V3 loop tip motif may be related to HIV-1 coreceptor usage and to disease progression. However, as analyzed by a bioinformatic method, the substitution of the V3 loop tip motif of the subtype B consensus sequence with the different tip motifs identified in the present study was not sufficient to induce a change in HIV-1 coreceptor usage.

The role of the parenchyma sheath and PCD during the development of oil cavities in Pterodon pubescens (Leguminosae-Papilionoideae)

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Structural and functional properties of Bp-LAAO, a new L-amino acid oxidase isolated from Bothrops pauloensis snake venom

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Molecular cloning and biochemical characterization of a myotoxin inhibitor from Bothrops alternatus snake plasma

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Comparison of the susceptibility of Santa Ines and Ile de France ewes to nematode parasitism around parturition and during lactation

Breeds of sheep with resistance to nematode infection often display a reduced periparturient rise (PPR) in faecal egg counts (FEC) when compared with susceptible sheep. This trial was carried out to compare the resistance of Santa Ines, an indigenous Brazilian breed of sheep, and Ile de France ewes to natural infections by gastrointestinal nematodes, especially in the periparturient period. Twelve Santa lnes and 10 Ile de France ewes were estrus synchronized and then mated (December 2001). Lambing occurred from 30 April to 19 June 2002 and the lambs were weaned at 60 days of age. Faecal egg counts, packed cell volume (PCV), total plasma protein levels and peripheral eosinophils counts were determined from November 2001 to September 2002. To prevent deaths, individual treatment with anthelmintics was provided to ewes with FEC higher than 4000 eggs per gram (EPG) or with PCV lower than 21%. The percentage of Santa Ines ewes treated with anthelmintics was lower than that of Ile de France sheep. Eight of the 10 Ile de France ewes were treated, with one of them requiring four treatments, one requiring three treatments, and two requiring two treatments. The remaining four received a single treatment. In contrast, only 5 of the 12 Santa lnes ewes required treatment and for each this was done only once. The mean values of PCV were in the normal range in the Santa Ines ewes. In contrast, mean PCVs of Ile de France ewes reached a low of 24.5% in the second month after lambing and were significantly lower than Santa Ines 1 month before lambing (P < 0.05) and 2 months after lambing (P < 0.07). The mean plasma protein level was significantly lower in the Ile de France ewes in the second month after lambing (P < 0.01) coinciding with a reduction in PCV. The ewes of both breeds had high mean numbers of eosinophils in blood, which increased even further post-weaning when a marked reduction in FEC occurred. Haemonchus larvae were the most numerous genus in faecal cultures for both breeds followed by Trichostrongylus, Oesophagostomum and Cooperia. A periparturient rise in FEC was observed in both breeds. However, Santa Ines ewes showed a higher capacity to support the infection in an environment contaminated with large number of infective larvae of gastrointestinal nematodes. (C) 2004 Elsevier B.V. All rights reserved.

Influence of dietary protein supply on resistance to experimental infections with Haemonchus contortus in Ile de France and Santa Ines lambs

The effect of Haemonchus contortus infection in sheep fed with a moderate and high protein content diet was evaluated in two breeds of sheep. Forty-eight Ile de France and Santa Ines lambs were maintained indoors since birth, in worm-free conditions. The lambs were allocated after weaning in four groups of six animals per breed, which were either infected or remain uninfected and given access to either a moderately or highly metabolizable protein diet. The moderately and highly metabolizable protein diets were calculated to supply 75 and 129 g metabolizable protein per kg of dry matter (MP/kg DM), respectively. The infection consisted of a trickle infection with 300 infective larvae, three times a week, for 12 weeks. Significant differences were observed for mast cell, globule leukocyte and eosinophil counts in the abomasal mucosa of the infected groups compared to the control of both breeds (P < 0.05), regardless of the diet supplied. Significantly higher IgA anti-L5 antibody was detected in the infected Santa Ines groups than in the infected Ile de France groups (P < 0.05). Increased metabolizable protein supply resulted in larger body weight gain and higher packed cell volumes for both breeds (P < 0.05). Both breeds showed an increased ability to withstand the pathophysiological effects of H. contortus infection when given access to the highly metabolizable protein diet. However, increased metabolizable protein supply resulted in reduced worm burdens in Santa Ines lambs but not in the Ile de France lambs (P < 0.05). The present results show that the increase in protein content in growing lamb diets may benefit resistance and resilience to gastrointestinal parasites but that these benefits may vary among breeds. (c) 2005 Elsevier B.V. All rights reserved.

Resistance of Santa Ines, Suffolk and Ile de France sheep to naturally acquired gastrointestinal nematode infections

A study was conducted to assess the breed resistance against nematode infections in Santa Ines, Ile de France and Suffolk male lambs over a 9-month period in São Paulo state, Brazil. Lambs were born during the winter (year 2000) and were weaned at 2 months of age. The animals were then housed and treated with anthelmintics to eliminate natural infections by gastrointestinal nematodes. In late October 2000, lambs were placed in a paddock, where they stayed until August of the following year. Fecal and blood samples were taken from each animal every 2 weeks. on the same day, a pasture sample was collected to determine the number of infective larvae on the herbage. To prevent deaths, individual treatment with anthelmintics was provided to lambs with fecal egg counts (FEC) higher than 4000 eggs per gram (EPG) or with a packed cell volume (PCV) lower than 21%. In August 2001, all animals were slaughtered and the worms present in samples of the gastrointestinal contents were identified and counted. Most of the Suffolk and Ile de France sheep received three to six anthelmintic treatments over a period of 7 months, while most of the Santa Ines were not treated. Reductions in PCV and plasma protein values associated with high FEC and worm burdens were recorded, particularly, in Suffolk and Ile de France lambs. Haemonchus contortus and Oesophagostomum columbianum burdens and number of nodular lesions caused in the large intestine by O. columbianum larvae were significantly lower in Santa Ines sheep. All three breeds showed similar Trichostrongylus colubriformis worm burdens. The relative resistance of Santa Ines young male sheep was superior to that of Suffolk and Ile de France sheep. (C) 2004 Elsevier B.V. All rights reserved.

Influence of protein supplementation during late pregnancy and lactation on the resistance of Santa Ines and Ile de France ewes to Haemonchus contortus

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)