Vascular presentation of cystathionine beta-synthase deficiency in adulthood

Several recent studies describing a solely vascular presentation of cystathionine beta-synthase (CBS) deficiency in adulthood prompted us to analyze the frequency of patients manifesting with vascular complications in the Czech Republic. Between 1980 and 2009, a total of 20 Czech patients with CBS deficiency have been diagnosed yielding an incidence of 1:311,000. These patients were divided into three groups based on symptoms leading to diagnosis: those with vascular complications, with connective tissue manifestation and with neurological presentation. A vascular event such as a clinical feature leading to diagnosis of homocystinuria was present in five patients, while two of them had no other symptoms typical for CBS deficiency at the time of diagnosis. All patients with the vascular manifestation were diagnosed only during the past decade. The median age of diagnosis was 29 years in the vascular, 11.5 years in the connective tissue and 4.5 years in the neurological group. The ratio of pyridoxine responsive to nonresponsive patients was higher in the vascular (4 of 5 patients) and connective tissue groups (6 of 7 patients) than in the neurological group (2 of 8 patients). Mutation c.833T>C (p.I278T) was frequent in patients with vascular (6/10 alleles) and connective tissue presentation (8/14 alleles), while it was not present in patients with neurological involvement (0/16 alleles). During the last decade, we have observed patients with homocystinuria diagnosed solely due to vascular events; this milder form of homocystinuria usually manifests at greater ages, has a high ratio of pyridoxine responsiveness/nonresponsiveness, and the mutation c.833T>C (p.I278T) is often present

Geographic origin and migration phenology of European red admirals (Vanessa atalanta) as revealed by stable isotopes.

BACKGROUND: Long-distance migration has evolved multiple times in different animal taxa. For insect migrants, the complete annual migration cycle covering several thousand kilometres, may be performed by several generations, each migrating part of the distance and reproducing. Different life-cycle stages and preferred orientation may thus, be found along the migration route. For migrating red admirals (Vanessa atalanta) it has been questioned if they reproduce in the most northern part of the range. Here we present migration phenology data from a two-year time series of migrating red admirals captured at Rybachy, Kaliningrad, in the northern part of Europe investigating time for migration, life-history stage (migration, reproduction) as well as site of origin in individual butterflies. METHODS: Red admirals were captured daily at a coastal site during spring, summer and autumn in 2004 and 2005. For the sampled individuals, reproductive status and fuel content were estimated by visual inspection, and hydrogen isotopes (δ 2H) were analysed in wing samples. δ 2H values was compared with samples from two nearby reference sites in Estonia and Poland. RESULTS: Analysis of hydrogen isotopes (δ 2H) in red admiral wings showed that the spring cohort were of a southerly origin, while those caught in August or later in the autumn were from the local region or areas further to the north. All females caught during spring had developing eggs in their abdomen, but no eggs were found in late summer/autumn. There was a male-biased sex ratio during autumn and a difference in lipid content between years. When comparing the isotopic data with inland nearby locations, it was clear that the range of δ 2H values (- 181 to - 78) was wider at Rybachy as compared to the two reference sites in Estonia and Poland (- 174 to - 100). CONCLUSIONS: During spring, migratory female red admirals arrived from the south and were ready to reproduce, while the autumn passage mainly engaged local and more northern individuals carrying large fuel deposits in preparation for long-distance migration. The phenology data suggest that individuals select to migrate in favourable weather conditions and that numbers may differ between years. Future studies should focus on individual sampling at a wide range of sites to reveal differential migration strategies and timing of migration between sexes and populations of migrating butterflies

Idiopathic radiographic apical root resorption in wind instrument players

Root resorption of the permanent teeth involves an elaborate interaction among inflammatory cells resulting in loss of dental hard tissues. This report describes three clinical cases where idiopathic root resorption occurred in wind instrument playing patients. These patients produce adequate non-orthodontic forces, while playing their instruments, to expose their teeth to root resorbing force. Careful clinical monitoring of patients' teeth should be undertaken, as the additive effects of orthodontic treatment and musical habits are unknown

Pheromone variability and evolution in the butterfly genus Bicyclus, and implication in its diversification

The evolution of olfactive communication in generating reproductive isolation among species remains poorly understood (Smadja & Butlin 2009). In Lepidoptera, studies have mainly focused on long-distance pheromones produced by moths. Moth sex pheromones have been shown to display inter-population variation (e.g. Tòth et al. 1992, McElfresh & Millar 2008 and ref. within, Groot et al. 2009) and to be involved in interspecific isolation (e.g. Löfstedt et al. 1991, Groot et al. 2006). In butterflies, the few existing studies on sex pheromones have mainly focused on the identification of the male specific compounds and the demonstration of their behavioural activity in courtship (e.g. Grula et al. 1980, Nieberding et al. 2008, Yildizhan et al. 2009), but have failed so far to highlight a role in reproductive isolation (Friberg et al. 2008). In the species-rich Bicyclus genus Kirby, 1871 (Nymphalidae, Satyrinae) the structures producing the pheromones, i.e. the androconia, are key characters to discriminate among species (Condamin 1973). In B. anynana (Butler, 1879), the male sex pheromone (MSP) has been shown to play a role in mate choice (Costanzo & Monteiro 2007, Nieberding et al. 2008), to be heritable, and particular ratios of the pheromone components are under strong sexual selection (Nieberding et al, unpubl. data). Therefore, we expect that pheromone evolution is responsible for reproductive isolation and diversification in this butterfly group. In this framework, our research project aims at understanding the evolution of MSP at the interspecific level across the Bicyclus genus and specifically at testing their potential role in the speciation process. Potential MSP of several species across the Bicyclus genus have been identified by gas chromatography and mass spectrometry. Observed differences in pheromone composition between species are compared in a phylogenetic framework to the molecular tree of the species (following Oliver et al. 2009). We expect the evolutionary rate of MSP to be unlinked to the molecular tree if MSP are under sexual selection across the genus (i.e. saltational evolution following Symonds & Elgar 2004, Shirangi et al. 2009). Moreover, if MSP generated reproductive isolation between species in a “reinforcement” process, we expect higher differences of MSP composition between sympatric species than between allopatric species and an increase of this pattern for younger species compared to older species (Lukhtanov et al. 2006)