bluuebunny/crossref_metadata_2025_split huggingface dataset:
Uptake of BRCA1 Genetic Testing in Adult Sisters and Daughters of Known Mutation Carriers in Norway
Authors: Bodd Trine Levin , Reichelt Jon , Heimdal Ketil , Møller Pål 
Published: October 2003

AbstractThis study was undertaken to examine transmission of information to first‐degree relatives of BRCA1 mutation carriers and uptake of genetic testing. The intention was to consider revision of current legislation related to privacy if information on life‐saving health care was not disseminated to at‐risk family members. The Norwegian Radium Hospital provides clinical genetics services for families at high risk for hereditary breast and ovarian cancer. Together with major hospitals nationwide we provide medical surveillance. Nearly all expenses are covered by the National Health insurance. Because of the high number of families with founder mutations in BRCA1, we are in a unique position to gather information about these groups. Within a consecutive series, we identified 75 BRCA1 mutation carriers and registered information transmission and uptake of genetic testing 6 months or more after the index mutation carriers had been informed about their mutation status. These 75 BRCA1 mutation carriers had 172 living first‐degree relatives, aged 18 years or older (84 females, 88 males). Forty‐four out of 54 (81.5%) of females over 30 had opted for genetic testing. The testing rate among all relatives was 43%. At any age, 63% of the females underwent genetic testing compared with 24% of the males (p<0.05). The overwhelming majority of adult females at risk opted for genetic testing. Males with daughters more frequently than males without daughters asked for testing. The findings give neither reason to reconsider legislation on privacy, nor for us to consider more aggressive methods of contacting relatives.
Towards quality assurance in the determination of lysosomal enzymes: A two‐centre study
Authors: Lukacs Z. , Keil A. , Peters V. , Kohlschütter A. , Hoffmann G. F. , Cantz M. , Kopitz J. 
Published: October 2003

AbstractThe definitive diagnosis of lysosomal storage disorders depends on the determination of enzymatic activities in cells, tissues or body fluids. At present, neither an evaluation of the different methods nor an interlaboratory quality assurance scheme is available. We have therefore determined the activities of total hexosaminidase, hexosaminidase A and β‐galactosidase in the same samples (n=15) at two metabolic centres in Germany. Three different enzymatic methods were employed, two of which were based on leukocytes as enzyme source and one on dried blood spots. The results obtained by the two different methods using leukocytes proved comparable. In contrast, assays with dried blood spots showed poor correlation with results from leukocytes, possibly because enzymatic activity in dried blood is mainly derived from soluble plasma proteins. Nevertheless, accurate detection of a true enzyme deficiency was also possible in dried blood spots. All enzymes were highly stable when mailed frozen (recovery 98–120%). Enzymatic activities in dried blood samples were also stable at room temperature and were not affected even by exposure to elevated temperatures (50°C for 3h). Dried blood seems to be especially well suited for mailing from distant healthcare facilities, although more accurate results can be expected from leukocytes. In summary, comparability and pitfalls within a lysosomal quality assurance programme were evaluated.
Stereoselective analysis of 2‐hydroxysebacic acid in urine of patients with Zellweger syndrome and of premature infants fed withmedium‐chain triglycerides
Authors: Muth A. , Mosandl A. , Wanders R. J. A. , Nowaczyk M. J. M. , Baric I. , Böhles H. , Sewell A. C. 
Published: October 2003

AbstractThe chiral metabolite 2‐hydroxysebacic acid (2‐HS) is considered to be an important diagnostic marker for peroxisomal disorders. The pathway of formation of 2‐HS, excreted in increased amounts in patients with peroxisomal diseases, is not absolutely clear. Moreover, there is no information about the enantiomeric distribution of 2‐HS in human urine. Here, we describe the stereodifferentiation of 2‐HS in urine samples of nine patients with Zellweger syndrome (ZS), and for the first time in urine samples of premature infants fed a medium‐chain triglyceride (MCT)‐containing diet. Using enantioselective multidimensional gas chromatography—mass spectrometry, an increased excretion of 2R‐HS was observed in all investigated ZS patients. 2‐HS was also present in urine samples of premature infants fed MCT. Analogously to the ZS patients, a dominant 2R‐HS excretion in the urine samples of the premature infants was identified. The formation of 2‐HS is expected to result from the same or similar pathways as described for ZS patients. Additionally, we determined the absolute configuration of urinary 3‐hydroxysebacic acid (3‐HS) in the cases investigated. The enantioselective analysis provides further information for the diagnosis and treatment of patients with impaired peroxisomal fatty acid oxidation. Further insight into the metabolic origin and the biochemical pathway leading to these urinary metabolites is provided.
Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency
Authors: Olpin S. E. , Afifi A. , Clark S. , Manning N. J. , Bonham J. R. , Dalton A. , Leonard J. V. , Land J. M. , Andresen B. S. , Morris A. A. , Muntoni F. , Turnbull D. , Pourfarzam M. , Rahman S. , Pollitt R. J. 
Published: October 2003

AbstractCarnitine palmitoyltransferase type II (CPT II) deficiency has three basic phenotypes, late‐onset muscular (mild), infantile/juvenile hepatic (intermediate) and severe neonatal. We have measured fatty acid oxidation and CPT II activity and performed mutation studies in 24 symptomatic patients representing the full clinical spectrum of disease. Severe and intermediate phenotypes show a clear correlation with biochemical indices and genetic analysis revealed causative mutations in most patients. Studies of mild phenotypes suggest a more complex interaction, with higher residual fatty acid oxidation, a wider range of CPT II activity (10–60%) but little evidence of genotype‐phenotype correlation. Residual CPT II mutant protein from myopathic patients shows thermal instability at 41°C. The common 'polymorphisms' V3681 and M647V are strikingly overrepresented in the myopathic patients, the implication being that they may significantly influence the manifestation of clinical disease and could therefore potentially be considered as a susceptibility variants. Among myopathic individuals, males comprised 88! of patients, suggesting increased susceptibility to clinical disease. A small number of symptomatic patients appear to have significant residual CPT II activity (42–60%) The synergistic interaction of partial deficiencies of CPT II, muscle adenosine monophosphate deaminase and possibly other enzymes of muscle energy metabolism in the aetiology of episodic myopathy deserves wider consideration.
Exercise intolerance, muscle pain and lactic acidaemia associated with a 7497G>A mutation in the tRNASer(UCN) gene
Authors: Grafakou O. , Hol F. A. , Otfried Schwab K. , Siers M. H. , Ter Laak H. , Trijbels F. , Ensenauer R. , Boelen C. , Smeitink J. 
Published: October 2003

AbstractA 13‐year‐old girl with non‐familial exercise intolerance, muscle pain and lactic acidaemia underwent a muscle biopsy for suspected mitochondrial disease. Muscle morphology showed 25% ragged‐red fibres and 80% COX‐negative staining. Enzymatic activities of mitochondrially co‐encoded respiratory chain enzymes (complexes I, III, and IV) were decreased in muscle but normal in cultured skin fibroblasts. mtDNA analysis revealed the presence of the 7497G>A mutation in the tRNASer(UCN) gene, homoplasmic in skeletal muscle and 90% in leukocytes. Analysis of the mother's mtDNA showed 10% heteroplasmy in blood. It may be concluded that the 7497G>A mutation is associated with a muscle‐only disease presentation for which high levels of mutated mtDNA are required. Exercise intolerance and muscle pain in otherwise normal children warrants further mitochondrial evaluation.
Periodontal conditions in patients with juvenile idiopathic arthritis
Authors: Miranda Letícia A. , Fischer Ricardo G. , Sztajnbok Flávio R. , Figueredo Carlos Marcelo S. , Gustafsson Anders 
Published: October 2003

AbstractObjective: Our aim was to compare the periodontal conditions in a group of juvenile idiopathic arthritis (JIA) patients with those in a control group of healthy subjects (CTR).Material and Methods: Thirty‐two patients with JIA and 24 controls were selected. The measurements used to diagnose periodontal disease included plaque and bleeding scores, probing depths (PDs) and clinical attachment loss (CAL). Laboratory indicators of JIA activity included the erythrocyte sedimentation rate (ESR) and capsule‐reactive protein (CRP). The Mann–Whitney test was used to evaluate the data (α=0.05).Results: The mean ages were 15.9 (±2.7) years and 14.7 (±2.3) years for groups JIA and CTR, respectively. The median ESR was 42 mm/h in the JIA group and 13 mm/h in the CTR group (p=0.032) and the median CRP was 1.9 and 0.4 mg/l, respectively (p=0.001). The prevalence of patients with a proximal attachment loss of 2 mm or more in the JIA group was 25% and in controls it was 4.2%. The mean percentages of visible plaque and marginal bleeding were similar in the JIA (54±22 and 30±16, respectively) and CTR groups (44±18 and 29±11, respectively). The mean percentages of sites with PD4 mm were significantly higher in the JIA group (3±4.7) than in the CTR group (0.4±1.7) (p=0.012). The mean percentages of sites with proximal CAL2 mm were 0.7 (±1.4) in the JIA group and 0.001 (±0.2) in the CTR group (p=0.022).Conclusion: Adolescents with JIA present more periodontal attachment loss than healthy controls, in spite of similar plaque and marginal bleeding levels.
Bacterial colonization during de novo plaque formation
Authors: Ramberg Per , Sekino Satoshi , Uzel Naciye Guzin , Socransky Sigmund , Lindhe Jan 
Published: October 2003

AbstractObjective: To determine microbial changes that occur during plaque formation in a dentition free of gingival inflammation.Material and Methods: Ten subjects were recruited. The study included one preparatory period (2 weeks) and a plaque accumulation period (4 days). The volunteers exercised proper tooth cleaning methods, were scaled and received repeated professional mechanical tooth cleaning during the preparatory period. During the plaque accumulation period, the participants abstained from plaque control measures. Plaque was scored on the approximal surfaces of maxillary and mandibular premolars on Days 0, 1, 2 and 4 using a scale from 0 to 5 and according to the criteria of the Quigley and Hein Plaque Index (QHI). Supragingival plaque samples were obtained from the same intervals and surfaces and evaluated using a checkerboard DNA–DNA hybridization technique.Results: The mean QHI increased from 0 to 1.6 (Day 4). The total number of organisms on Day 0 averaged 140×105 and increased to about 210×105 after 4 days without oral hygiene.The most dominant species on Day 0 were members of the genus Actinomyces. These organisms comprised almost 50% of the microbiota evaluated. None of the Actinomyces species increased significantly during the 4 days. Some Streptococcus species increased significantly over time as well as species of the genera Capnocytophaga, Campylobacter, Fusobacteria and Actinomyces actinomycetemcomitans.Conclusion: In the present investigation, the preparatory phase established a situation with minimal gingival inflammation and close to zero amounts of dental plaque. The Day 0 plaque samples exhibited high proportions of Actinomyces species. During the 4 days of no oral hygiene, there was a small increase in total numbers of organisms as well as a modest increase in the proportion of “disease‐associated” taxa such as species of the “orange complex” species.
The connection between in vitro water uptake and in vivo skin moisturization
Authors: Sagiv Assaf E. , Marcus Yizhak 
Published: October 2003

Background/purpose: Humectancy or hygroscopy is the water absorption tendency of a substance from the surroundings. Our interest, from the clinical point of view, consists of correlating this tendency in vitro and its effect in vivo for the development of drugs and formulations for the treatment of dry skin syndrome or diseases accompanied by dry skin.Method: In vitro, water absorption was measured using the comparative isopiestic method. This method is based on bringing the vapor of the water to isothermal equilibrium between a reference system and the material to be studied. The in vivo model on guinea‐pigs for the dry skin syndrome tested the therapeutic ability of mono‐, di‐ and tri‐glycerols to provide moisture to dry skin leading to healing. The moisture content in the stratum corneum was measured with a Corneometer CM 825® PC that measures merely the presence of high dielectric material (humectant or water), whereas the Mexameter MX 16® measures a pathological parameter – the erythema.Results: Adding hydroxyl groups to a consecutive set of polyhydroxyalkanes increases the humectancy of the polyols in vitro. This elevation was found to be linear at low relative humidities (Relative humidity=31.9% and 37°C). In vivo, moisture was returned to normal within a week in all three groups.However, only glycerol managed to abolish the erythema within 7 days.Conclusion: A rise in water absorption ability in vitro, at a rate of about 0.25 mol water per hydroxyl group was revealed in a consecutive set of glycerols (mono‐, di‐ and tri‐glycerols). One would expect that the better humectant is a material, i.e. in which the higher its physical ability to hold water in vitro the more effective it will be in recovering skin dryness. We have found, however, that glycerol, which has the lowest humectant activity in vitro, from the set of glycerols, di‐ and tri‐glycerol, has been proven to be the best for eliminating the signs of skin dryness. Accordingly, we propose to distinguish between the in vitro humectancy (i.e. the water uptake of a material), and its in vivo moisturizing effect, i.e. its ability to cure skin dryness and erythema. This finding supports our conclusion that the connection between in vitro humectancy and in vivo moisturization is not a simple correlation.
Reflectance spectroscopy can quantify cutaneous haemoglobin oxygenation by oxygen uptake from the atmosphere after epidermal barrier disruption
Authors: Heise H. M. , Lampen P. , Stücker M. 
Published: October 2003

Background: The supply of oxygen to the viable skin tissue within the upper layers is not only secured by the cutaneous blood vascular system, but to a significant part also by oxygen diffusion from the atmosphere through the horny layer. The aim of this study was to examine whether changes in haemoglobin oxygenation can be observed within the isolated perfused bovine udder skin used as a skin model by removing the upper horny layer by adhesive tape stripping.Methods: Diffuse reflectance spectroscopy in the visible spectral range was used for non‐invasive characterisation of haemoglobin oxygenation in skin under in vitro conditions. Mid‐infrared attenuated total reflectance spectroscopy was employed for analysing the surface layer of the stratum corneum with respect to keratin, water and lipid components. Skin barrier disruption was achieved by repeated stripping of superficial corneocyte layers by adhesive tape.Results and conclusion: Significant changes in skin haemoglobin oxygenation were observed for skin areas with reduced lipid concentration and a reduced stratum corneum layer, as determined from the quantitative evaluation of the diffuse reflectance skin spectra. The result can be interpreted as an increase of oxygen diffusion after the removal of the upper horny layer.
SkinChip®, a new tool for investigating the skin surface in vivo
Authors: Lévêque Jean Luc , Querleux Bernard 
Published: October 2003

Background/aims: Non‐invasive methods used for characterizing skin micro‐relief and skin surface hydration were developed in the 1980s. Although they allowed some progress in the knowledge of skin properties, they are not completely satisfactory in many aspects. Today, new technologies are emerging that may address such issues.Methods: We adapted the technology produced by the ST Microelectronics Company for sensing fingerprint for the measurement of skin surface properties. Accordingly, we developed acquisition software for obtaining routinely the distribution of skin surface capacitance along different body sites. Image analysis softwares were also processed for collecting both the main orientations of the micro‐relief lines and their density. The average value of skin capacitance is also obtained.Results: The images allow a highly precise observation of the skin topography that can be easily quantified in terms of line density and line orientation. The mean gray levels of the images appear much closely correlated to the Corneometer values.Conclusion: This new device appears to be a very convenient way for characterizing the properties of the skin surface. With regard to hydration, it usefully provides both the average value and the hydration chart of the investigated skin zones.
Isolation and characterization of genes differentially expressed during the interaction between apple fruit and Penicillium expansum
Authors: Sánchez‐Torres Paloma , González‐Candelas Luis 
Published: October 2003

SUMMARYDifferences in gene expression during the susceptible interaction between ‘Golden Delicious’ apple fruits and the fungus Penicillium expansum were investigated by differential display (DD) RT‐PCR. Partial cDNAs from 26 clones from both the fungus and the fruit were selected for nucleotide sequence determination and homology searches, and 20 were subsequently selected for further analyses. In a preliminary series of Northern blot analyses, 18 genes were confirmed as showing a higher expression level during the apple–fungus interaction than in control tissues. Southern analyses permitted an assignation of the fruit or fungal origin of each cDNA. Thirteen clones were derived from P. expansum and five from apple. A more detailed analysis of their expression patterns was conducted in an independent infection experiment confirming the differential expression for 12 of them. Among the differentially expressed genes were one fungal gene encoding an unknown protein and two apple genes, homologous to a β‐glucosidase and a phosphatase 2C, respectively, that were exclusively expressed during the infection process. Several up‐regulated P. expansum genes seem to mediate adaptive responses to the host environment.
Geomorphology and fish assemblages in a Piedmont river basin, U.S.A.
Authors: Walters D. M. , Leigh D. S. , Freeman M. C. , Freeman B. J. , Pringle C.M. 
Published: October 2003

Summary1. We investigated linkages between fishes and fluvial geomorphology in 31 wadeable streams in the Etowah River basin in northern Georgia, U.S.A. Streams were stratified into three catchment sizes of approximately 15, 50 and 100 km2, and fishes and geomorphology were sampled at the reach scale (i.e. 20–40 times stream width).2. Non‐metric multidimensional scaling (NMDS) identified 85% of the among‐site variation in fish assemblage structure and identified strong patterns in species composition across sites. Assemblages shifted from domination by centrarchids, and other pool species that spawn in fine sediments and have generalised food preferences, to darter‐cyprinid‐redhorse sucker complexes that inhabit riffles and runs, feed primarily on invertebrates, and spawn on coarser stream beds.3. Richness and density were correlated with basin area, a measure of stream size, but species composition was best predicted (i.e. |r| between 0.60–0.82) by reach‐level geomorphic variables (stream slope, bed texture, bed mobility and tractive force) that were unrelated to stream size. Stream slope was the dominant factor controlling stream habitat. Low slope streams had smaller bed particles, more fines in riffles, lower tractive force and greater bed mobility compared with high slope streams.4. Our results contrast with the ‘River Continuum Concept’ which argues that stream assemblages vary predictably along stream size gradients. Our findings support the ‘Process Domains Concept’, which argues that local‐scale geomorphic processes determine the stream habitat and disturbance regimes that influence stream communities.
Invertebrate communities associated with a native (Vallisneria americana) and an alien (Trapa natans) macrophyte in a large river
Authors: Strayer David L. , Lutz Colleen , Malcom Heather M. , Munger Krista , Shaw William H. 
Published: October 2003

Summary1. We used a corer and a Downing box sampler to sample macroinvertebrates living on and beneath the introduced Trapa natans and the native Vallisneria americana in the freshwater tidal Hudson River, New York.2. Densities of macroinvertebrates were higher in Trapa than in Vallisneria, and higher in the interior of plant beds than at their edges. These effects were largely a result of high plant biomass in Trapa beds and in bed interiors (the plants have similar surface area per unit mass).3. The composition of both epiphytic and benthic macroinvertebrates differed distinctly between Trapa and Vallisneria, and also seasonally.4. These compositional differences were not easily interpretable as rising from possible differences in oxygen concentrations, fish predation, or water circulation in the two macrophytes.5. Sida crystallina (Cladocera) collected from Trapa contained more haemoglobin than those collected from Vallisneria.6. The replacement of Vallisneria by Trapa in the Hudson probably increased system‐wide biodiversity and food for fish, although macroinvertebrates in Trapa beds may not be readily available to fish because of low oxygen concentration there.
Phosphorus cycling and partitioning in an oligotrophic Everglades wetland ecosystem: a radioisotope tracing study
Authors: Noe Gregory B. , Scinto Leonard J. , Taylor Jonathan , Childers Daniel L. , Jones Ronald D. 
Published: October 2003

Summary1. Our goal was to quantify short‐term phosphorus (P) partitioning and identify the ecosystem components important to P cycling in wetland ecosystems. To do this, we added P radiotracer to oligotrophic, P‐limited Everglades marshes. 32PO4 was added to the water column in six 1‐m2 enclosed mesocosms located in long‐hydroperiod marshes of Shark River Slough, Everglades National Park. Ecosystem components were then repeatedly sampled over 18 days.2. Water column particulates (>0.45 μm) incorporated radiotracer within the first minute after dosing and stored 95–99% of total water column 32P activity throughout the study. Soluble (<0.45 μm) 32P in the water column, in contrast, was always <5% of the 32P in surface water. Periphyton, both floating and attached to emergent macrophytes, had the highest specific activity of 32P (Bq g−131P) among the different ecosystem components. Fish and aquatic macroinvertebrates also had high affinity for P, whereas emergent macrophytes, soil and flocculent detrital organic matter (floc) had the lowest specific activities of radiotracer.3. Within the calcareous, floating periphyton mats, 81% of the initial 32P uptake was associated with Ca, but most of this 32P entered and remained within the organic pool (Ca‐associated = 14% of total) after 1 day. In the floc layer, 32P rapidly entered the microbial pool and the labile fraction was negligible for most of the study.4. Budgeting of the radiotracer indicated that 32P moved from particulates in the water column to periphyton and floc and then to the floc and soil over the course of the 18 day incubations. Floc (35% of total) and soil (27%) dominated 32P storage after 18 days, with floating periphyton (12%) and surface water (10%) holding smaller proportions of total ecosystem 32P.5. To summarise, oligotrophic Everglades marshes exhibited rapid uptake and retention of labile 32P. Components dominated by microbes appear to control short‐term P cycling in this oligotrophic ecosystem.