129 research outputs found
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
Associação entre níveis plasmáticos de homocisteína e acidente vascular cerebral isquêmico: estudo transversal analítico
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
Plasma folate, but not homocysteine, is associated with Apolipoprotein A1 levels in a non-fortified population
Extraction of Indigo from Some Isatis species and Dyeing Standardization Using Low-technology Methods
High-risk human papilloma virus (HPV) and survival in patients with esophageal carcinoma: a pilot study
Possíveis mecanismos trombogênicos da hiper-homocisteinemia e o seu tratamento nutricional
Methylenetetrahydrofolate reductase gene polymorphism and its association with coronary artery disease
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