340 research outputs found
Phytoplankton community structure and environment in the Kenyan waters of Lake Victoria
1. Phytoplankton species composition, numerical abundance, spatial distribution and total biomass measured as chlorophyll a concentration were studied in relation to environmental factors in September 1994 (dry season) and March 1995 (rainy season), respectively, in the Kenyan waters of Lake Victoria; 103 species were recorded. 2. Blue-green algae (Cyanophyceae) were most diverse, followed by diatoms (Bacillariophyceae), green algae (Chlorophyceae) and dinoflagellates (Dinophyceae). 3. Twinspan separated the phytoplankton communities in the Nyanza Gulf and those in the open lake during both seasons. During the dry season, the Nyanza Gulf was strongly dominated by blue-greens, while diatoms dominated in the open lake. During the rainy season, blue-greens remained dominant in the Nyanza Gulf although the number of species found was lower than during the dry season; in the open lake, blue-greens replaced diatoms as the dominant group and there were more species than in the dry season. 4. Canonical correspondence analysis indicated that the phytoplankton species distribution was significantly correlated with turbidity during the dry season and with SiO2 during the rainy season. Chlorophyll a concentrations ranging from 2.0 to 71.5 mg m-3 in the dry season and 2.0-17.2 mg m-3 in the rainy season confirm earlier reports of increasing phytoplankton biomass in Lake Victoria since the 1960s
Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation
Abstract: Background: Recessive forms of osteogenesis imperfecta (OI) may be caused by mutations in LEPRE1, encoding prolyl 3-hydroxylase-1 (P3H1) or in CRTAP, encoding cartilage associated protein. These proteins constitute together with cyclophilin B (CyPB) the prolyl 3-hydroxylation complex that hydroxylates the Pro986 residue in both the type I and type II collagen alpha 1-chains.
Methods: We screened LEPRE1, CRTAP and PPIB (encoding CyPB) in a European/Middle Eastern cohort of 20 lethal/severe OI patients without a type I collagen mutation.
Results: Four novel homozygous and compound heterozygous mutations were identified in LEPRE1 in four probands. Two probands survived the neonatal period, including one patient who is the eldest reported patient (17(7/12) years) so far with P3H1 deficiency. At birth, clinical and radiologic features were hardly distinguishable from those in patients with autosomal dominant (AD) severe/lethal OI. Follow-up data reveal that the longer lived patients develop a severe osteochondrodysplasia that overlaps with, but has some distinctive features from, AD OI. A new splice site mutation was identified in two of the four probands, affecting only one of three LEPRE1 mRNA splice forms, detected in this study. The affected splice form encodes a 736 amino acid (AA) protein with a "KDEL'' endoplasmic reticulum retention signal. While western blotting and immunocytochemical analysis of fibroblast cultures revealed absence of this P3H1 protein, mass spectrometry and SDS-urea-PAGE data showed severe reduction of alpha 1(I) Pro986 3-hydroxylation and overmodification of type I (pro) collagen chains in skin fibroblasts of the patients.
Conclusion: These findings suggest that the 3-hydroxylation function of P3H1 is restricted to the 736AA splice form
Transient colonization of the airways by unusual Aspergillus species in two cystic fibrosis patients
Date du colloque : 06/2009</p
Osteogenesis imperfecta: the audiological phenotype lacks correlation with the genotype
Contains fulltext :
97190.pdf (publisher's version ) (Open Access)ABSTRACT: BACKGROUND: Osteogenesis Imperfecta (OI) is a heritable connective tissue disorder mainly caused by mutations in the genes COL1A1 and COL1A2 and is associated with hearing loss in approximately half of the cases. The hearing impairment usually starts between the second and fourth decade of life as a conductive hearing loss, frequently evolving to mixed hearing loss thereafter. A minority of patients develop pure sensorineural hearing loss. The interindividual variability in the audiological characteristics of the hearing loss is unexplained. METHODS: With the purpose of evaluating inter- and intrafamilial variability, hearing was thorougly examined in 184 OI patients (type I: 154; type III: 4; type IV: 26), aged 3-89 years, with a mutation in either COL1A1 or COL1A2 and originating from 89 different families. Due to the adult onset of hearing loss in OI, correlations between the presence and/or characteristics of the hearing loss and the underlying mutation were investigated in a subsample of 114 OI patients from 64 different families who were older than 40 years of age or had developed hearing loss before the age of 40. RESULTS: Hearing loss was diagnosed in 48.4% of the total sample of OI ears with increasing prevalence in the older age groups. The predominant type was a mixed hearing loss (27.5%). A minority presented a pure conductive (8.4%) or pure sensorineural (12.5%) loss. In the subsample of 114 OI subjects, no association was found between the nature of the mutation in COL1A1 or COL1A2 genes and the occurrence, type or severity of hearing loss. Relatives originating from the same family differed in audiological features, which may partially be attributed to their dissimilar age. CONCLUSIONS: Our study confirms that hearing loss in OI shows a strong intrafamilial variability. Additional modifications in other genes are assumed to be responsible for the expression of hearing loss in OI
Natural enemies from South Africa for biological control of Lagarosiphon major (Ridl.) Moss ex Wager (Hydrocharitaceae) in Europe
The non-native invasive plant, Lagarosiphon major (Hydrocharitaceae) is a submersed aquatic macrophyte that poses a significant threat to water bodies in Europe. Dense infestations prove difficult to manage using traditional methods. In order to initiate a biocontrol programme, a survey for natural enemies of Lagarosiphon was conducted in South Africa. Several phytophagous species were recorded for the first time, with at least three showing notable promise as candidate agents. Amongst these, a leaf-mining fly, Hydrellia sp. (Ephydridae) that occurred over a wide distribution causes significant leaf damage despite high levels of parasitism by braconid wasps. Another yet unidentified fly was recorded mining the stem of L. major. Two leaf-feeding and shoot boring weevils, cf. Bagous sp. (Curculionidae) were recorded damaging the shoot tips and stunting the growth of the stem. Several leaf-feeding lepidopteran species (Nymphulinae) were frequently recorded, but are expected to feed on a wide range of plant species and are not considered for importation before other candidates are assessed. The discovery of several natural enemies in the country of origin improves the biological control prospects of L. major in Europe
Laboratory prediction of the requirement for renal replacement in acute falciparum malaria
BACKGROUND: Acute renal failure is a common complication of severe malaria in adults, and without renal replacement therapy (RRT), it carries a poor prognosis. Even when RRT is available, delaying its initiation may increase mortality. Earlier identification of patients who will need RRT may improve outcomes. METHOD: Prospectively collected data from two intervention studies in adults with severe malaria were analysed focusing on laboratory features on presentation and their association with a later requirement for RRT. In particular, laboratory indices of acute tubular necrosis (ATN) and acute kidney injury (AKI) that are used in other settings were examined. RESULTS: Data from 163 patients were available for analysis. Whether or not the patients should have received RRT (a retrospective assessment determined by three independent reviewers) was used as the reference. Forty-three (26.4%) patients met criteria for dialysis, but only 19 (44.2%) were able to receive this intervention due to the limited availability of RRT. Patients with impaired renal function on admission (creatinine clearance < 60 ml/min) (n = 84) had their laboratory indices of ATN/AKI analysed. The plasma creatinine level had the greatest area under the ROC curve (AUC): 0.83 (95% confidence interval 0.74-0.92), significantly better than the AUCs for, urinary sodium level, the urea to creatinine ratio (UCR), the fractional excretion of urea (FeUN) and the urinary neutrophil gelatinase-associated lipocalcin (NGAL) level. The AUC for plasma creatinine was also greater than the AUC for blood urea nitrogen level, the fractional excretion of sodium (FeNa), the renal failure index (RFI), the urinary osmolality, the urine to plasma creatinine ratio (UPCR) and the creatinine clearance, although the difference for these variables did not reach statistical significance. CONCLUSIONS: In adult patients with severe malaria and impaired renal function on admission, none of the evaluated laboratory indices was superior to the plasma creatinine level when used to predict a later requirement for renal replacement therapy
Proposed nomenclature for Pseudallescheria, Scedosporium and related genera
As a result of fundamental changes in the International Code of Nomenclature on the use of separate names for sexual and asexual stages of fungi, generic names of many groups should be reconsidered. Members of the ECMM/ISHAM working group on Pseudallescheria/Scedosporium infections herein advocate a novel nomenclature for genera and species in Pseudallescheria, Scedosporium and allied taxa. The generic names Parascedosporium, Lomentospora, Petriella, Petriellopsis, and Scedosporium are proposed for a lineage within Microascaceae with mostly Scedosporium anamorphs producing slimy, annellidic conidia. Considering that Scedosporium has priority over Pseudallescheria and that Scedosporium prolificans is phylogenetically distinct from the other Scedosporium species, some name changes are proposed. Pseudallescheria minutispora and Petriellidium desertorum are renamed as Scedosporium minutisporum and S. desertorum, respectively. Scedosporium prolificans is renamed as Lomentospora prolificans
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