Comparison of long versus short ("spot") drug-eluting stenting for long coronary stenoses

We compared spot drug-eluting stenting (DES) to full stent coverage for treatment of long coronary stenoses. Consecutive, consenting patients with a long (>20 mm) coronary lesion of nonuniform severity and indication for percutaneous coronary intervention were randomized to full stent coverage of the atherosclerotic lesion with multiple, overlapping stenting (full DES group, n = 90) or spot stenting of hemodynamically significant parts of the lesion only (defined as diameter stenosis >50%; spot DES group, n = 89). At 1-year follow-up, 14 patients with full DES (15.6%) and 5 patients (5.6%) with spot DES had a major adverse cardiac event (MACE; p = 0.031). At 3 years, MACEs occurred in 18 patients with full DES (20%) and 7 patients (7.8%) with spot DES (p = 0.019). Cox proportional hazard model showed that the risk for MACEs was almost 60% lower in patients with spot DES compared to those with full DES (hazard ratio 0.41, 95% confidence interval 0.17 to 0.98, p = 0.044). This association remained even after controlling for age, gender, lesion length, and type of stent used (hazard ratio 0.42, 95% confidence interval 0.17 to 1.00, p = 0.05). In conclusion, total lesion coverage with DES is not necessary in the presence of diffuse disease of nonuniform severity. Selective stenting of only the significantly stenosed parts of the lesion is an appropriate therapeutic alternative in this setting, offering a favorable clinical outcome.

Preventive effect of ozone on the development of white spot lesions during multibracket appliance therapy

OBJECTIVE: To test the null hypotheses: (1) there is no difference in the caries protective effect of ozone and Cervitec/Fluor Protector during multibracket (MB) appliance therapy, and (2) DIAGNOdent and quantitative light-induced fluorescence (QLF) are not superior to a visual evaluation of initial caries lesions. MATERIALS AND METHODS: Twenty right-handed patients with a very poor oral hygiene who required full MB appliance therapy were analyzed during 26 months. In a split-mouth-design, the four quadrants of each patient were either treated with ozone, a combination of Cervitec and Fluor Protector, or served as untreated controls. The visible plaque index (VPI) and white spot formation were analyzed clinically. DIAGNOdent and QLF were used for a quantitative assessment of white spot formation. RESULTS: The average VPI in all four dental arch quadrants amounted to 55.6% and was independent of the preventive measure undertaken. In the quadrants treated with Cervitec/Fluor Protector, only 0.7% of the areas developed new, clinically visible white spots. This was significantly (P < .05) less than in the quadrants treated with ozone (3.2%). The lesions detected with QLF only partially corresponded to the clinically detected white spots, while DIAGNOdent proved to be unable to detect any changes at all. CONCLUSIONS: The caries protective effect of Cervitec/Fluor Protector during MB therapy was superior to ozone, and a visual evaluation of initial caries lesions was superior to both DIAGNOdent and QLF.

Arachnomelia in Brown Swiss cattle maps to chromosome 5

Arachnomelia in Brown Swiss cattle is a monogenic autosomal recessive inherited congenital disorder of the skeletal system giving affected calves a spidery look (OMIA ID 000059). Over a period of 20 years 15 cases were sampled in the Swiss and Italian Brown cattle population. Pedigree data revealed that all affected individuals trace back to a single acknowledged carrier founder sire. A genome scan using 240 microsatellites spanning the 29 bovine autosomes showed homozygosity at three adjacent microsatellite markers on bovine Chr 5 in all cases. Linkage analysis confirmed the localization of the arachnomelia mutation in the region of the marker ETH10. Fine-mapping and haplotype analysis using a total of 34 markers in this region refined the critical region of the arachnomelia locus to a 7.19-Mb interval on bovine Chr 5. The disease-associated IBD haplotype was shared by 36 proven carrier animals and allows marker-assisted selection. As the corresponding human and mouse chromosome segments do not contain any clear functional candidate genes for this disorder, the mutation causing arachnomelia in the Brown Swiss cattle might help to identify an unknown gene in bone development.

Genetic mapping of the belt pattern in Brown Swiss cattle to BTA3

The white belt pattern of Brown Swiss cattle is characterized by a lack of melanocytes in a stretch of skin around the midsection. This pattern is of variable width and sometimes the belt does not fully circle the body. To identify the gene responsible for this colour variation, we performed linkage mapping of the belted locus using six segregating half-sib families including 104 informative meioses for the belted character. The pedigree confirmed a monogenic autosomal dominant inheritance of the belted phenotype in Brown Swiss cattle. We performed a genome scan using 186 microsatellite markers in a subset of 88 animals of the six families. Linkage with the belt phenotype was detected at the telomeric region of BTA3. Fine-mapping and haplotype analysis using 19 additional markers in this region refined the critical region of the belted locus to a 922-kb interval on BTA3. As the corresponding human and mouse chromosome segments contain no obvious candidate gene for this coat colour trait, the mutation causing the belt pattern in the Brown Swiss cattle might help to identify an unknown gene influencing skin pigmentation.

Complex interaction between proliferative kidney disease, water temperature and concurrent nematode infection in brown trout

Proliferative kidney disease (PKD) is a temperature-dependent disease caused by the myxozoan Tetracapsuloides bryosalmonae. It is an emerging threat to wild brown trout Salmo trutta fario populations in Switzerland. Here we examined (1) how PKD prevalence and pathology in young-of-the-year (YOY) brown trout relate to water temperature, (2) whether wild brown trout can completely recover from T. bryosalmonae-induced renal lesions and eliminate T. bryo - salmonae over the winter months, and (3) whether this rate and/or extent of the recovery is influenced by concurrent infection. A longitudinal field study on a wild brown trout cohort was conducted over 16 mo. YOY and age 1+ fish were sampled from 7 different field sites with various temperature regimes, and monitored for infection with T. bryosalmonae and the nematode Raphidascaris acus. T. bryosamonae was detectable in brown trout YOY from all sampling sites, with similar renal pathology, independent of water temperature. During winter months, recovery was mainly influenced by the presence or absence of concurrent infection with R. acus larvae. While brown trout without R. acus regenerated completely, concurrently infected brown trout showed incomplete recovery, with chronic renal lesions and incomplete translocation of T. bryosalmonae from the renal interstitium into the tubular lumen. Water temperature seemed to influence complete excretion of T. bryosalmonae, with spores remaining in trout from summer-warm rivers, but absent in trout from summer-cool rivers. In the following summer months, we found PKD infections in 1+ brown trout from all investigated river sites. The pathological lesions indicated a reinfection rather than a proliferation of remaining T. bryosalmonae. However, disease prevalence in 1+ trout was lower than in YOY.

Assessing vegetation cover and biomass in restored erosion areas in Iceland using SPOT satellite data

Due to highly erodible volcanic soils and a harsh climate, livestock grazing in Iceland has led to serious soil erosion on about 40% of the country's surface. Over the last 100 years, various revegetation and restoration measures were taken on large areas distributed all over Iceland in an attempt to counteract this problem. The present research aimed to develop models for estimating percent vegetation cover (VC) and aboveground biomass (AGB) based on satellite data, as this would make it possible to assess and monitor the effectiveness of restoration measures over large areas at a fairly low cost. Models were developed based on 203 vegetation cover samples and 114 aboveground biomass samples distributed over five SPOT satellite datasets. All satellite datasets were atmospherically corrected, and digital numbers were converted into ground reflectance. Then a selection of vegetation indices (VIs) was calculated, followed by simple and multiple linear regression analysis of the relations between the field data and the calculated VIs. Best results were achieved using multiple linear regression models for both %VC and AGB. The model calibration and validation results showed that R2 and RMSE values for most VIs do not vary very much. For percent VC, R2 values range between 0.789 and 0.822, leading to RMSEs ranging between 15.89% and 16.72%. For AGB, R2 values for low-biomass areas (AGB < 800 g/m2) range between 0.607 and 0.650, leading to RMSEs ranging between 126.08 g/m2 and 136.38 g/m2. The AGB model developed for all areas, including those with high biomass coverage (AGB > 800 g/m2), achieved R2 values between 0.487 and 0.510, resulting in RMSEs ranging from 234 g/m2 to 259.20 g/m2. The models predicting percent VC generally overestimate observed low percent VC and slightly underestimate observed high percent VC. The estimation models for AGB behave in a similar way, but over- and underestimation are much more pronounced. These results show that it is possible to estimate percent VC with high accuracy based on various VIs derived from SPOT satellite data. AGB of restoration areas with low-biomass values of up to 800 g/m2 can likewise be estimated with high accuracy based on various VIs derived from SPOT satellite data, whereas in the case of high biomass coverage, estimation accuracy decreases with increasing biomass values. Accordingly, percent VC can be estimated with high accuracy anywhere in Iceland, whereas AGB is much more difficult to estimate, particularly for areas with high-AGB variability.

Temperature-induced sex reversal is not responsible for sex-ratio distortions in grayling Thymallus thymallus or brown trout Salmo trutta

On the basis of the experiments carried out over various years, it was concluded that (1) grayling Thymallus thymallus and brown trout Salmo trutta are resistant to temperature-induced sex reversal at ecologically relevant temperatures, (2) environmental sex reversal is unlikely to cause the persistent sex ratio distortion observed in at least one of the study populations and (3) sex-specific tolerance of temperature-related stress may be the cause of distorted sex ratios in populations of T. thymallus or S. trutta.

"Hot spot" in the PROP1 gene responsible for combined pituitary hormone deficiency.

As pituitary function depends on the integrity of the hypothalamic-pituitary axis, any defect in the development and organogenesis of this gland may account for a form of combined pituitary hormone deficiency (CPHD). Although pit-1 was 1 of the first factors identified as a cause of CPHD in mice, many other homeodomain and transcription factors have been characterized as being involved in different developmental stages of pituitary gland development, such as prophet of pit-1 (prop-1), P-Lim, ETS-1, and Brn 4. The aims of the present study were first to screen families and patients suffering from different forms of CPHD for PROP1 gene alterations, and second to define possible hot spots and the frequency of the different gene alterations found. Of 73 subjects (36 families) analyzed, we found 35 patients, belonging to 18 unrelated families, with CPHD caused by a PROP1 gene defect. The PROP1 gene alterations included 3 missense mutations, 2 frameshift mutations, and 1 splice site mutation. The 2 reported frameshift mutations could be caused by any 2-bp GA or AG deletion at either the 148-GGA-GGG-153 or 295-CGA-GAG-AGT-303 position. As any combination of a GA or AG deletion yields the same sequencing data, the frameshift mutations were called 149delGA and 296delGA, respectively. All but 1 mutation were located in the PROP1 gene encoding the homeodomain. Importantly, 3 tandem repeats of the dinucleotides GA at location 296-302 in the PROP1 gene represent a hot spot for CPHD. In conclusion, the PROP1 gene seems to be a major candidate gene for CPHD; however, further studies are needed to evaluate other genetic defects involved in pituitary development.

Neurotologic and functional MRI findings in a patient with bilateral profound deafness having Brown-Vialetto-Van Leare syndrome

INTRODUCTION We report the first findings of functional magnetic resonance imaging of the auditory cortex in a young woman with a bilateral cochleovestibular deficit as first manifestation of Brown-Vialetto-Van Leare syndrome. The patient had no open speech discrimination, even with hearing aids, and is depending on lip reading for communication. METHODS To evaluate the possible efficiency of a cochlear implantation, we investigated hemodynamic responses within the central auditory pathways using an auditory functional magnetic resonance imaging paradigm. RESULTS Blood oxygen level-dependent correlates were detected bilaterally along the auditory pathways after exposure to intermittent clicking tone stimulation at 2 kHz. CONCLUSION These results suggest integrity of the central auditory pathways and represent a positive argument to propose a cochlear implantation with the aim to restore hearing.

The brown coat colour of Coppernecked goats is associated with a non-synonymous variant at the TYRP1 locus on chromosome 8

The recent development of a goat SNP genotyping microarray enables genome-wide association studies in this important livestock species. We investigated the genetic basis of the black and brown coat colour in Valais Blacknecked and Coppernecked goats. A genome-wide association analysis using goat SNP50 BeadChip genotypes of 22 cases and 23 controls allowed us to map the locus for the brown coat colour to goat chromosome 8. The TYRP1 gene is located within the associated chromosomal region, and TYRP1 variants cause similar coat colour phenotypes in different species. We thus considered TYRP1 as a strong positional and functional candidate. We resequenced the caprine TYRP1 gene by Sanger and Illumina sequencing and identified two non-synonymous variants, p.Ile478Thr and p.Gly496Asp, that might have a functional impact on the TYRP1 protein. However, based on the obtained pedigree and genotype data, the brown coat colour in these goats is not due to a single recessive loss-of-function allele. Surprisingly, the genotype distribution and the pedigree data suggest that the (496) Asp allele might possibly act in a dominant manner. The (496) Asp allele was present in 77 of 81 investigated Coppernecked goats and did not occur in black goats. This strongly suggests heterogeneity underlying the brown coat colour in Coppernecked goats. Functional experiments or targeted matings will be required to verify the unexpected preliminary findings.