| 1. |
- Becker, Kerstin, et al.
(författare)
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De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability : further delineation of the 6q14 microdeletion syndrome and review of the literature
- 2012
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Ingår i: European Journal of Medical Genetics. - : Elsevier BV. - 1769-7212 .- 1878-0849. ; 55:8-9, s. 490-497
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Tidskriftsartikel (refereegranskat)abstract
- Interstitial 6q deletions can cause a variable phenotype depending on the size and location of the deletion. 6q14 deletions have been associated with intellectual disability and a distinct pattern of minor anomalies, including upslanted palpebral fissures with epicanthal folds, a short nose with broad nasal tip, anteverted nares, long philtrum, and thin upper lip. In this study we describe two patients with overlapping 6q14 deletions presenting with developmental delay and characteristic dysmorphism. Molecular karyotyping using array CGH analysis revealed a de novo 8.9 Mb deletion at 6q14.1-q14.3 and a de novo 11.3 Mb deletion at 6q12.1-6q14.1, respectively. We provide a review of the clinical features of twelve other patients with 6q14 deletions detected by array CGH analysis. By assessing all reported data we could not identify a single common region of deletion. Possible candidate genes in 6q14 for intellectual disability might be FILIP1, MYO6, HTR1B, and SNX14.
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| 2. |
- Böhm, Johann, et al.
(författare)
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Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.
- 2012
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Ingår i: Human mutation. - : Hindawi Limited. - 1098-1004 .- 1059-7794. ; 33:6, s. 949-59
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Tidskriftsartikel (refereegranskat)abstract
- Centronuclear myopathy (CNM) is a genetically heterogeneous disorder associated with general skeletal muscle weakness, type I fiber predominance and atrophy, and abnormally centralized nuclei. Autosomal dominant CNM is due to mutations in the large GTPase dynamin 2 (DNM2), a mechanochemical enzyme regulating cytoskeleton and membrane trafficking in cells. To date, 40 families with CNM-related DNM2 mutations have been described, and here we report 60 additional families encompassing a broad genotypic and phenotypic spectrum. In total, 18 different mutations are reported in 100 families and our cohort harbors nine known and four new mutations, including the first splice-site mutation. Genotype-phenotype correlation hypotheses are drawn from the published and new data, and allow an efficient screening strategy for molecular diagnosis. In addition to CNM, dissimilar DNM2 mutations are associated with Charcot-Marie-Tooth (CMT) peripheral neuropathy (CMTD1B and CMT2M), suggesting a tissue-specific impact of the mutations. In this study, we discuss the possible clinical overlap of CNM and CMT, and the biological significance of the respective mutations based on the known functions of dynamin 2 and its protein structure. Defects in membrane trafficking due to DNM2 mutations potentially represent a common pathological mechanism in CNM and CMT.
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| 3. |
- Calvès, Isabelle, et al.
(författare)
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Genetic structure of European flounder Platichthys flesus: effects of both the southern limit of the species’ range and chemical stress
- 2013
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Ingår i: Marine Ecology Progress Series. - : Inter-Research Science Center. - 0171-8630 .- 1616-1599. ; 472, s. 257-273
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Tidskriftsartikel (refereegranskat)abstract
- The genetic structure of European flounder Platichthys flesus populations was analysed in the southern part of the species’ distribution area, from England to Portugal; samples were collected in 5 estuaries which were chosen because of their latitudinal cline, the level of contaminants and the possibility of hypoxia: the Tamar in England; the Canche, Seine and Vilaine in France; and the Mondego in Portugal. Analysing the variability of a mitochondrial marker (cytochrome c oxidase subunit I), we observed (1) a moderately higher nucleotide diversity in the Tamar and Canche, reflecting the probable existence of a major refugium in this sector during the last glacial maximum, and (2) a reduced genetic differentiation over the whole data set. The use of 8 microsatellites underlined the maintenance of genetic diversity in the peripheral population of the Mondego, located near the southern limit of the species’ range; furthermore, significant pairwise differentiations of populations including Mondego underlined the particular genetic status of this Portuguese population. The polymorphism of a candidate gene involved in energetic metabolism, AMP-deaminase isoform 1, was investigated focusing on exon 1; we found the highest heterozygosities in the more polluted populations (Seine, Tamar) and marked differentiations compared to the other group of populations (Mondego, Vilaine, Canche). The pattern of variability observed for the AMP-deaminase suggests that in chronically contaminated flounder populations, cocktails of pollutants act as selective agents directly or indirectly on this locus.
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| 4. |
- Cosyn, Jan, et al.
(författare)
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The peri-implant sulcus compared with internal implant and suprastructure components : a microbiological analysis.
- 2011
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Ingår i: Clinical Implant Dentistry and Related Research. - 1523-0899 .- 1708-8208. ; 13:4, s. 286-295
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Tidskriftsartikel (refereegranskat)abstract
- PURPOSE: A recent in vivo study has shown considerable contamination of internal implant and suprastructure components with great biodiversity, indicating bacterial leakage along the implant-abutment interface, abutment-prosthesis interface, and restorative margins. The goal of the present study was to compare microbiologically the peri-implant sulcus to these internal components on implants with no clinical signs of peri-implantitis and in function for many years. Checkerboard DNA-DNA hybridization was used to identify and quantify 40 species.MATERIAL AND METHODS: Fifty-eight turned titanium Brånemark implants in eight systemically healthy patients (seven women, one man) under regular supportive care were examined. All implants had been placed in the maxilla and loaded with a screw-retained full-arch bridge for an average of 9.6 years. Gingival fluid samples were collected from the deepest sulcus per implant for microbiological analysis. As all fixed restorations were removed, the cotton pellet enclosed in the intra-coronal compartment and the abutment screw were retrieved and microbiologically evaluated.RESULTS: The pellet enclosed in the suprastructure was very similar to the peri-implant sulcus in terms of bacterial detection frequencies and levels for practically all the species included in the panel. Yet, there was virtually no microbial link between these compartments. When comparing the abutment screw to the peri-implant sulcus, the majority of the species were less frequently found, and in lower numbers at the former. However, a relevant link in counts for a lot of bacteria was described between these compartments. Even though all implants in the present study showed no clinical signs of peri-implantitis, the high prevalence of numerous species associated with pathology was striking.CONCLUSIONS: Intra-coronal compartments of screw-retained fixed restorations were heavily contaminated. The restorative margin may have been the principal pathway for bacterial leakage. Contamination of abutment screws most likely occurred from the peri-implant sulcus via the implant-abutment interface and abutment-prosthesis interface.
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| 5. |
- Larochelle, Jean, et al.
(författare)
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Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Québec.
- 2012
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Ingår i: Molecular genetics and metabolism. - : Elsevier BV. - 1096-7206 .- 1096-7192. ; 107:1-2, s. 49-54
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Tidskriftsartikel (refereegranskat)abstract
- Hepatorenal tyrosinemia (HT1, fumarylacetoacetate hydrolase deficiency, MIM 276700) can cause severe hepatic, renal and peripheral nerve damage. In Québec, HT1 is frequent and neonatal HT1 screening is practiced. Nitisinone (NTBC, Orfadin ®) inhibits tyrosine degradation prior to the formation of toxic metabolites like succinylacetone and has been offered to HT1 patients in Québec since 1994.
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| 6. |
- Streatfield, P Kim, et al.
(författare)
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Mortality from external causes in Africa and Asia : evidence from INDEPTH Health and Demographic Surveillance System Sites
- 2014
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Ingår i: Global Health Action. - : CoAction Publishing. - 1654-9716 .- 1654-9880. ; 7
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Mortality from external causes, of all kinds, is an important component of overall mortality on a global basis. However, these deaths, like others in Africa and Asia, are often not counted or documented on an individual basis. Overviews of the state of external cause mortality in Africa and Asia are therefore based on uncertain information. The INDEPTH Network maintains longitudinal surveillance, including cause of death, at population sites across Africa and Asia, which offers important opportunities to document external cause mortality at the population level across a range of settings.OBJECTIVE: To describe patterns of mortality from external causes at INDEPTH Network sites across Africa and Asia, according to the WHO 2012 verbal autopsy (VA) cause categories.DESIGN: All deaths at INDEPTH sites are routinely registered and followed up with VA interviews. For this study, VA archives were transformed into the WHO 2012 VA standard format and processed using the InterVA-4 model to assign cause of death. Routine surveillance data also provide person-time denominators for mortality rates.RESULTS: A total of 5,884 deaths due to external causes were documented over 11,828,253 person-years. Approximately one-quarter of those deaths were to children younger than 15 years. Causes of death were dominated by childhood drowning in Bangladesh, and by transport-related deaths and intentional injuries elsewhere. Detailed mortality rates are presented by cause of death, age group, and sex.CONCLUSIONS: The patterns of external cause mortality found here generally corresponded with expectations and other sources of information, but they fill some important gaps in population-based mortality data. They provide an important source of information to inform potentially preventive intervention designs.
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| 7. |
- Suan, Guillaume, et al.
(författare)
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Palaeoenvironmental significance of Toarcian black shales and event deposits from southern Beaujolais, France
- 2013
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Ingår i: Geological Magazine. - 0016-7568 .- 1469-5081. ; 150:4, s. 728-742
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Tidskriftsartikel (refereegranskat)abstract
- New sedimentological, biostratigraphical and geochemical data recording the Toarcian Oceanic Anoxic Event (T-OAE) are reported from a marginal marine succession in southern Beaujolais, France. The serpentinum and bifrons ammonite zones record black shales with high (1-10 wt %) total organic carbon contents (TOC) and dysoxia-tolerant benthic fauna typical of the 'Schistes Carton' facies well documented in contemporaneous nearby basins. The base of the serpentinum ammonite zone, however, differs from coeval strata of most adjacent basinal series in that it presents several massive storm beds particularly enriched in juvenile ammonites and the dysoxia-tolerant, miniaturized gastropod Coelodiscus. This storm-dominated interval records a marked negative 5 parts per thousand carbonate and organic carbon isotope excursion being time-equivalent with that recording storm-and mass flow-deposits in sections of the Lusitanian Basin, Portugal, pointing to the existence of a major tempestite/turbidite event over tropical areas during the T-OAE. Although several explanations remain possible at present, we favour climatically induced changes in platform morphology and storm activity as the main drivers of these sedimentological features. In addition, we show that recent weathering, most probably due to infiltration of O-2-rich meteoric water, resulted in the preferential removal of C-12-enriched organic carbon, dramatic TOC loss and total destruction of the lamination of the black shale sequence over most of the studied exposure. These latter observations imply that extreme caution should be applied when interpreting the palaeoenvironmental significance of sediments lacking TOC enrichment and lamination from outcrops with limited surface exposures.
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| 8. |
- Vincent, Peggy, et al.
(författare)
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Marine vertebrate remains from the Toarcian-Aalenian succession of southern Beaujolais, Rhone, France
- 2013
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Ingår i: Geological Magazine. - 0016-7568 .- 1469-5081. ; 150:5, s. 822-834
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Tidskriftsartikel (refereegranskat)abstract
- A previously undocumented marine vertebrate fauna comprising ichthyosaur, plesiosaur, marine crocodilian and fish remains from the Toarcian-Aalenian succession at Lafarge quarry, southern Beaujolais (Rhone, France) is described on the basis of both historical collections and new discoveries. The taxonomic composition of the Lafarge quarry marine vertebrate assemblage highlights its cosmopolitan nature and strong relationships with taxa known from elsewhere in Europe. Several groups are recorded for the first time in the Toarcian-Aalenian succession of France, implying new palaeobiogeographic interpretations and prompting discussion of marine amniote diversity during this interval.
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| 9. |
- Wang, Xiaofeng, et al.
(författare)
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Evidence for type ia supernova diversity from ultraviolet observations with the hubble space telescope
- 2012
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Ingår i: Astrophysical Journal. - 0004-637X .- 1538-4357. ; 749:2, s. 126-
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Tidskriftsartikel (refereegranskat)abstract
- We present ultraviolet (UV) spectroscopy and photometry of four Type Ia supernovae (SNe 2004dt, 2004ef, 2005M, and 2005cf) obtained with the UV prism of the Advanced Camera for Surveys on the Hubble Space Telescope. This data set provides unique spectral time series down to 2000 angstrom. Significant diversity is seen in the near-maximum-light spectra (similar to 2000-3500 angstrom) for this small sample. The corresponding photometric data, together with archival data from Swift Ultraviolet/Optical Telescope observations, provide further evidence of increased dispersion in the UV emission with respect to the optical. The peak luminositiesmeasured in the uvw1/F250W filter are found to correlate with the B-band light-curve shape parameter Delta m(15)(B), but with much larger scatter relative to the correlation in the broadband B band (e.g., similar to 0.4 mag versus similar to 0.2 mag for those with 0.8 mag < Delta m(15)(B) < 1.7 mag). SN 2004dt is found as an outlier of this correlation (at > 3 sigma), being brighter than normal SNe Ia such as SN 2005cf by similar to 0.9 mag and similar to 2.0 mag in the uvw1/F250W and uvm2/F220W filters, respectively. We show that different progenitor metallicity or line-expansion velocities alone cannot explain such a large discrepancy. Viewing-angle effects, such as due to an asymmetric explosion, may have a significant influence on the flux emitted in the UV region. Detailed modeling is needed to disentangle and quantify the above effects.
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