Effects of litter amount and seed sowing position on seedling emergence and growth of hemiparasitic Rhinanthus species under drought stress.

Roadside vegetation in Central Europe is mostly species-poor and dominated by a few grass species. Hemiparasitic plant species, including Rhinanthus spp., might effectively restrict grass growth, thereby making space for light-dependent herb species. Despite the significance of abiotic site conditions for plant establishment in general, their effects on Rhinanthus establishment are less well known. We investigated combined effects of water availability, litter amount and seed position within litter on Rhinanthus seedling emergence and growth. Two parallel greenhouse experiments were conducted with R. angustifolius and R. minor. In these, we tested the impact of 200 or 400 g litter·m-2 with seeds sown beneath or on top of a litter layer under constantly humid or intermittently dry conditions on seedling emergence and biomass production of Rhinanthus. Presence of litter positively affected Rhinanthus seedling emergence when sown beneath the litter layer and reduced negative effects of water deficiency. Sowing beneath a litter layer increased seedling emergence by 157%, with similar effects at 200 and 400 g litter·m-2. Water level did not affect biomass production. Compared to R. minor, R. angustifolius had higher mean biomass, and its seedlings emerged earlier and in higher numbers. Our results indicate that Rhinanthus spp. react similarly to litter as non-hemiparasitic plant species from temperate grasslands. Litter presence positively influenced Rhinanthus seedling emergence and growth under intermittently dry conditions. Its hemiparasitic characteristics might reduce drought impacts on biomass production. To ensure seed contact with the soil surface, seeds should be sown when no litter is present, or mulching should occur post-sowing.

Postmastectomy Radiation Therapy Planning After Immediate Implant-based Reconstruction Using the European Society for Radiotherapy and Oncology-Advisory Committee in Radiation Oncology Practice Consensus Guidelines for Target Volume Delineation.

AIMS: To evaluate how common radiation therapy techniques perform in the setting of the new European Society for Radiotherapy and Oncology-Advisory Committee in Radiation Oncology Practice (ESTRO-ACROP) delineation recommendations for immediate breast reconstruction (IBR). MATERIALS AND METHODS: Seven Danish radiation therapy centres and six international European centres participated in this project. Two breast cancer cases (one left-sided and one right-sided) with a retropectoral implant were chosen for radiation therapy planning using deep-inspiration breath-hold. Target volumes were delineated according to ESTRO-ACROP delineation recommendations. The centres were asked to plan the cases using any radiation therapy technique according to the Danish Breast Cancer Group plan objectives. RESULTS: In total, 35 treatment plans were collected. Half of the submitted plans, for both the left-sided and the right-sided case, used the field-in-field (FiF) technique (nine for each), a quarter used volumetric arc radiation therapy (VMAT; five for right-sided, four for left-sided) and the remaining quarter was a mix of inverse intensity-modulated radiation therapy (IMRT), helicoidal therapy and hybrid (combined open fields and VMAT) techniques. Mean clinical target volume doses were in the range 99-102% of the prescribed dose. The median FiF mean heart dose (MHD) for right-sided radiation therapy was 1 Gy (range 0.8-3.7) and 5.2 Gy for left-sided radiation therapy (range 2.2-6.5). For right-sided radiation therapy, the median VMAT MHD was 3.42 Gy, for IMRT was 2.3 Gy and for helicoidal therapy was 5.1 Gy. For left-sided radiation therapy, the median VMAT MHD was 6.3 Gy, for IMRT was 7.8 Gy and for helicoidal therapy was 7.3 Gy. CONCLUSIONS: Different radiation therapy techniques could be used to plan radiation therapy in the setting of IBR. FiF provided good coverage with acceptable organ at risk doses. The best dose distribution results as a trade-off between the objectives of target volume coverage and high-dose organ at risk inclusion. The radiation therapy technique affects the interplay between these objectives.

Pulmonary arteriovenous malformations: a radiological and clinical investigation of 136 patients with long-term follow-up.

AIM: To assess the clinical outcome of patients with and without hereditary haemorrhagic telangiectasia (HHT) after embolisation of pulmonary arteriovenous malformations (PAVM) from a single national centre. MATERIALS AND METHODS: The present register-based observational study including all patients with PAVM treated with embolisation at a reference centre for HHT and PAVM was undertaken over a 20-year period. Demographic data, HHT genotyping, clinical presentation, and outcome were registered. Patients with HHT were compared to the patients without HHT. Clinical examination, contrast-enhanced echocardiography, and computed tomography (CT) were used to assess the clinical outcome at follow-up. RESULTS: One hundred and thirty-six patients with 339 PAVM underwent embolisation during the study period: 22 did not have HHT; 62% had HHT1, 10% had HHT2, 4% had JP-HHT, 8% had clinical HHT without identified genetic mutations. Solitary PAVM were more common among patients without HHT than with HHT. Mean follow-up after the first embolisation was 58 months. Mean age at first embolisation was 46.5 years, and at last follow-up 51.8 years. The clinical success without shunt at follow-up was 87%. The 30-day mortality related to the embolisation was 0%. Twenty patients died during follow-up (mean age 69 years). Most patients could be treated during one session, but many will need a long follow-up with repeated clinical examinations and embolisation. CONCLUSION: The majority of patients referred for embolisation of PAVM had HHT. Multiple PAVM is associated with HHT. Patients with PAVM should be screened for HHT and patients with HHT for PAVM. Embolisation is a safe procedure with high clinical success.

Cerebral abscesses among Danish patients with hereditary haemorrhagic telangiectasia.

BACKGROUND: Hereditary haemorrhagic telangiectasia (HHT) is a dominantly inherited disease characterized by a wide variety of clinical manifestations, including pulmonary arteriovenous malformations (PAVMs), which due to paradoxical embolization may cause cerebral abscess. OBJECTIVE: To estimate the risk of cerebral abscess among patients with HHT. METHODS: All patients with HHT included in the Danish HHT data base, between January 1995 and October 2012, have been clinically evaluated for the presence of neurological symptoms and history of previous cerebral abscess. RESULTS: A total of 337 patients with HHT have been included in the Danish database. Of these, 264 were screened for the presence of PAVM. In 117 patients, a PAVM was diagnosed; among these, we identified nine patients with a history of cerebral abscess. The prevalence of cerebral abscess among patients with HHT and PAVM was therefore 7.8%. The patients with a history of cerebral abscess were genetically evaluated, and seven had ENG mutations, one had an ALK1 mutation, and in one case, a mutation could not be identified. CONCLUSION: Patients with untreated PAVM have a considerable risk of sustaining cerebral abscesses. A cerebral abscess may be the first symptom leading to an HHT diagnosis. Patients with unexplained cerebral abscess should be evaluated for HHT and PAVM.

Multicentre comparison of skin hydration in terms of physical-, physiological- and product-dependent parameters by the capacitive method (Corneometer CM 825).

A multicentre study for measuring skin hydration with 349 volunteers was carried out in six different laboratories. The purpose of the study was to investigate physical-, physiological- and product-dependent parameters of three test emulsions (base, base + moisturizer and base + moisturizer + lipids) in a double-blind study. A comparison between analogous and digital sensor technology of the Corneometer CM825 was examined. Here, a clear relationship between both sensor types could be highlighted. A vital point of the study was the division of the test subjects according to their skin type. To get more objective limits for three different skin types - very dry, dry and normal skin - visual expert evaluation, self-assessment and hydration measurements were analysed by means of statistical methods. The moisture-related skin types were determined as follows: very dry skin was characterized with corneometer units below 30, dry skin between 30 and 40 and normal skin higher than 40 a.u. (arbitrary units). The efficacy of the three test emulsions was examined in relation to the mentioned skin types. Analysing the measured data of all test centres, a clear dependency of skin physiology (skin type) and product efficacy became evident. The drier the skin, the higher the increase of hydration. The product performance of the three test emulsions compared to the untreated control resulted in a significant increase of skin hydration in all measuring centres. The evaluation of a product ranking showed a good differentiation between the basic emulsion and the two other products. An increase of efficacy by adding lipids could be observed in four of six centres. The important influence of the skin type of the volunteers on the degree of product performance, as demonstrated in this study, should be especially considered when drawing up guidelines for efficacy testing.

Safety evaluation of sous vide-processed ready meals.

AIMS: To assess survival, growth and toxin production of spore-forming bacteria in sous vide products exposed to a relatively high heat treatment. METHODS AND RESULTS: During a three-year period, 2,168 sous vide-processed, commercially available ready-made meals with a shelf life of 3-5 weeks were examined. The products were stored at 4 degrees C for the first 1/3 and at 7 degrees C for the remaining 2/3 of their shelf life period. Three-fourths of the samples had less than 10 bacteria per gram the day after production, and none had more than 1,000. Similar numbers were found at the end of the shelf life when stored as described above. At abuse temperature (20 degrees C), the number of bacteria increased to 10(6)-10(7) cfu g(-1) 7 d after production. A total of 350 isolates of Bacillus spp. were collected, but no Clostridium strains were detected. Only 11 of the 113 tested strains were able to grow at 7 degrees C in broth, and none of the psychrotrophic strains were able to produce substantial amounts of toxins causing food poisoning. CONCLUSION: The health risk of these products is small as long as the temperature during storage is low. For microbial testing of the end products, traditional plating will suffice.

Dexpanthenol enhances skin barrier repair and reduces inflammation after sodium lauryl sulphate-induced irritation.

BACKGROUND: Dexpanthenol-containing creams have been widely used for treatment of lesions (superficial wounds) of the skin and mucous membranes. Dexpanthenol is converted in tissues to pantothenic acid, a component of coenzyme A. Coenzyme A catalyses early steps in the synthesis of fatty acids and sphingolipids which are of crucial importance for stratum corneum lipid bilayers and cell membrane integrity. AIM: In the present study, the effects were examined of a dexpanthenol-containing cream on skin barrier repair, stratum corneum hydration, skin roughness, and inflammation after sodium lauryl sulphate (SLS)-induced irritation. METHODS: Irritation was induced by application of SLS in patch test chambers. The dexpanthenol-contaming cream or the vehicle were applied twice daily and barrier repair, hydration, roughness, and inflammation of the skin were determined by using biophysical methods. RESULTS: Significantly accelerated skin barrier repair was found in treatments with the dexpanthenol-containing cream (verum) compared with vehicle-treated (placebo) or untreated skin. Both verum and placebo showed an increase in stratum corneum hydration, but significantly more so with the dexpanthenol-containing cream. Both creams reduced skin roughness, but again the verum was superior. The dexpanthenol-containing cream significantly reduced skin redness as a sign of inflammation in contrast to the vehicle, which produced no effect. CONCLUSION: Treatment with a dexpanthenol-containing cream showed significantly enhanced skin barrier repair and stratum corneum hydration, while reducing skin roughness and inflammation.

Characterization, production, and purification of carnocin H, a bacteriocin produced by Carnobacterium 377.

Carnocin H, a bacteriocin produced by a Carnobacterium sp., inhibited lactic acid bacteria, clostridia, enterococci, and some Staphylococcus aureus strains. Some strains of Listeria and Pediococcus were also sensitive to carnocin H. The bacteriocin was produced during the late stationary growth phase. Carnocin H was purified by cation exchange chromatography and reverse phase chromatography. Amino acid sequence and composition indicate that carnocin H is a novel bacteriocin belonging to the class II bacteriocins. The bacteriocin consists of approximately 75 amino acid residues with a highly cationic N-terminal containing six succeeding lysines. Activity, as measured by agar diffusion zones, was reduced at increased pH values, levels of indicator bacteria, NaCl, agar, and soy oil.

Familial hypercholesterolaemia in Finland: common, rare and mild mutations of the LDL receptor and their clinical consequences. Finnish FH-group.

Familial hypercholesterolaemia (FH) is an autosomal co-dominantly inherited condition resulting from mutations of the low-density lipoprotein (LDL) receptor which occur in heterozygous form in approximately one in 500 individuals. Clinically, FH is characterized by 2-3-fold elevation of serum LDL cholesterol levels, accelerated development of atherosclerotic vascular disease, and, if untreated, shortened lifespan. The Finnish population, which represents a genetic isolate, offers exceptional possibilities for genetic-epidemiological studies on FH, as a handful of founder gene mutations account for the majority of FH cases in Finland. This review summarizes data from our FH studies carried out since 1985. We wish to emphasize the continuum of genotype-phenotype relationships, the importance of molecular diagnosis, the detection of novel risk factors of vascular disease, and innovations inhibiting cholesterol absorption for the modern treatment of FH.

Identification of recurrent and novel mutations in the LDL receptor gene in German patients with familial hypercholesterolemia.

In order to identify mutations in the low density lipoprotein receptor (LDLR) gene in primary hypercholesterolemia, we screened 100 unrelated German individuals with elevated plasma LDL-C (LDL-C > 4,7 mmol/l) for mutations in the 18 exons and their flanking intronic sequences including the promoter region of the LDL-R gene using a combination of polymerase chain reaction (PCR), denaturing gradient gel electrophoresis (DGGE) and direct sequencing. In addition we tested all patients for the presence of mutations in codons 3456 - 3553 of the gene encoding apolipoprotein B-100. In 56 individuals we detected 37 different mutations affecting the LDL-R gene, 16 of which, designated C122R, C127Y, C163W, F179L, R236W, E296X, R553C, V618D, T721I, V785D, G1358+2A, 257delTCTGGAGGT, 657delC, 676insACGGTATGGACTGCAdelGACG, C1205delTCT, 2420delTCCTTCT, have not yet been reported. One proband was a compound heterozygote showing two separate sequence variations (E207X and T705I). Seven patients were heterozygous for the mutation R3500Q within the apoB-100 gene. These results demonstrate that there is a broad spectrum of mutations in the LDL-R gene and that the R3500Q mutation is a frequent cause of hypercholesterolemia in the German population.

Characterization and growth of Bacillus spp. in heat-treated cream with and without nisin.

AIMS: To study the germination and growth of both inoculated and naturally occurring Bacillus strains in heat-treated cream with and without nisin. METHODS AND RESULTS: In heat-treated cream (90 degrees C for 15 min) stored at 8 degrees C, growth was dominated by naturally occurring Bacillus strains such as Bacillus pumilus and B. licheniformis. Only six of the 52 isolated strains were B. cereus/thuringiensis. All of the B. cereus strains, but none of the other strains, produced enterotoxin when tested with the TECRA and reverse passive latex agglutination kits. Bacterial growth during storage of the cream at 8 or 10 degrees C was completely inhibited by low concentrations of nisin. CONCLUSION: The high number of Bacillus strains surviving the heat treatment represent a risk for heat-treated food that contains cream. The safety of the cream, for instance in "ready-to-eat" products, can be improved by the addition of low concentrations of nisin. SIGNIFICANCE AND IMPACT OF THE STUDY: Spores of several Bacillus species may survive heat treatment of cream, but low concentration of nisin with inhibit germination and growth.

Measurements of nitrogen dioxide in Greenland using Palmes diffusion tubes.

Measurements of nitrogen dioxide using the Palmes diffusion tubes in Uummannaq, Aasiaat, and Nuuk. all located along the west-coast of Greenland, have demonstrated that the levels of pollution at the most heavily impacted sites are comparable to levels in much larger towns in Denmark. The highest concentrations were, in general, observed near sites influenced by car traffic (peak concentrations of up to 16 ppbv), medium concentrations were observed in the residential areas (2 6 ppbv), and very low levels were found at the background locations in the town outskirts (1-2 ppbv). Observations of nitrogen dioxide concentrations less than 0.1 ppbv at a remote site, Akia, 25 km from Nuuk, indicate that, compared to local sources, long-range transport of nitrogen dioxide is not important in western Greenland.

Survival and growth of Escherichia coli O157:H7, Yersinia enterocolitica and Salmonella enteritidis on decontaminated and untreated meat.

Decontamination of meat or carcasses may have an effect in reducing the number of pathogens. Recontamination with other pathogens during cutting or packaging may, however, result in higher growth on decontaminated than on untreated meat due to the lack of competing non-pathogenic microorganisms. In this study we compared the growth of pathogens during storage at 10°C (worst case condition) on untreated meat and meat that had been decontaminated by steam vacuuming combined with spraying with 0.2 M lactic acid. Salmonella enteritidis inoculated on chicken multiplied quickly and reached log 7 cfu per cm(2) after 4 days of aerobic storage at 10°C, but growth was not significantly higher on decontaminated than on untreated chicken. The number of Yersinia enterocolitica inoculated on decontaminated pork skin reached log 9 cfu per cm(2) after 5 days of aerobic storage at 10°C. Overall, growth on vacuum-packed decontaminated and untreated pork under the same conditions was not significantly different, although there tended to be less growth on the untreated samples. The number of Escherichia coli O157:H7 on decontaminated beef increased by nearly 3 log cycles after 5 days of aerobic storage at 10°C compared to only a 1 log cycle increase on untreated beef. For the vacuum-packed beef, growth of E. coli O157:H7 on the fresh meat was very slow, while there was about a 3 log increase on the decontaminated beef. A higher average growth on the decontaminated beef was also found in an experiment with a very low inoculum (27 cfu per cm(2)). During storage of vacuum-packed samples there was multiplication of E. coli O157:H7 on the decontaminated beef, but virtually none on the untreated beef. This study shows that multiplication of S. enteritidis on chicken and Y. enterocolitica on pork skin was not significantly higher on decontaminated compared to untreated meat. The increased multiplication of E. coli O157:H7 on decontaminated beef, especially when vacuum-packed, gives cause for concern. Preventive measures might be a strict HACCP approach to the handling of the decontaminated meat before packaging or use of a protective culture of lactic acid bacteria.

Comparison between the growth of Yersinia enterocolitica, listeria monocytogenes, escherichia coli O157:H7 and salmonella spp. in ground beef packed by three commercially used packaging techniques.

Growth of the pathogens Yersinia enterocolitica, Listeria monocytogenes, Escherichia coli O157:H7 and strains of Salmonella were compared in ground beef packed in modified atmospheres of 60% CO2/40% N2/0.4% CO (high CO2/low CO mixture), 70% O2/30% CO2 (high O2 mixture) and in chub packs (stuffed in plastic casings). The ground beef was inoculated with rifampicin-resistant or nalidixic acid/streptomycin-resistant strains of the pathogens (final concentration 10(2) - 10(3) bacteria/g) and stored at 4 and 10 degrees C for up to 14 days. At 4 degrees C the shelf life, based on colour stability and background flora development, was prolonged for the high CO2/low CO mixture compared to the two other packaging methods, but at 10 degrees C the shelf life was < 8 days for all the packaging methods. Growth of Y. enterocolitica was nearly totally inhibited both at 4 and 10 degrees C in the high CO2/low CO mixture, while the bacterial numbers in the samples packed in the high O2 mixture increased from about 5 x 10(2) bacteria/g at day 0 to about 10(4) at day 5 at 4 degrees C and to 10(5) at 10 degrees C. Growth in the chub packs was even higher. L. monocytogenes showed very little growth at 4 degrees C in all treatments. At 10 degrees C there was slow growth from about 5 x 10(3) bacteria/g to about 10(4) at day 5 in the high CO2/low CO mixture, while the numbers in the high O2 mixture and the chub packs were about 10 times higher. Growth of E. coli O157:H7 at 10 degrees C in the ground beef was nearly totally inhibited in both the high CO2/low CO mixture and the high O2 mixture. Growth in the chub packs was higher, as the number of bacteria increased 3 log in 5 days. The Salmonella strains (S. typhimurium, S. dublin, S. enteritidis and S. enterica 61:k:1,5,(7)) in the ground beef stored at 10 degrees C for 5 and 7 days grew to a higher number in the high CO2/low CO mixture than in the high O2 mixture. This study shows that the growth of Y. enterocolitica and L. mononcytogenes in ground beef stored in the high CO2 /low CO mixture was not increased as a result of prolonging the shelf life. However, the observed growth of strains of Salmonella at 10 degrees C in this mixture and in chub packs does emphasise the importance of temperature control during storage.

FH-Freiburg: a novel missense mutation (C317Y) in growth factor repeat A of the low density lipoprotein receptor gene in a German patient with homozygous familial hypercholesterolemia.

We describe the characterization of a novel mutation in the low density lipoprotein receptor (LDL-R) gene in a patient with true homozygous familial hypercholesterolemia (FH). The combined use of denaturing gradient gel electrophoresis (DGGE) and sequencing of genomic DNA revealed a guanine to adenine base substitution at nucleotide position 1013 of the LDL-R cDNA. This point mutation results in a change from cysteine to tyrosine at amino acid residue 317 of repeat A of the epidermal growth factor (EGF) precursor homology domain. Binding, uptake and degradation of iodinated LDL in skin fibroblasts from the homozygous patient were less than 10% of normal. In contrast, binding, uptake and degradation of iodinated VLDL was reduced by only 60, 30, and 38%, respectively. Incubation of the patient's fibroblasts in the presence of cholesterol diminished the residual binding of VLDL by 50%, suggesting that the loss of the highly conserved cysteine at position 317 results in a LDL-R that fails to bind LDL, but retains some ability to bind VLDL by interacting with the apolipoprotein E. Both parents were heterozygous for the C317Y mutation. Interestingly, however, the father presented with markedly elevated levels of triglycerides and VLDL cholesterol, whereas his LDL cholesterol was unexpectedly low. The mother of the index patient had only slightly elevated LDL cholesterol. These observations testify to the biological complexity of genotype-environment interactions in individuals carrying mutations at the LDL-R locus and indicate that genetic analysis importantly complements the clinical and biochemical diagnosis of patients with hyperlipidemia.

Predominance of a 6 bp deletion in exon 2 of the LDL receptor gene in Africans with familial hypercholesterolaemia.

In South Africa, the high prevalence of familial hypercholesterolaemia (FH) among Afrikaners, Jews, and Indians as a result of founder genes is in striking contrast to its reported virtual absence in the black population in general. In this study, the molecular basis of primary hypercholesterolaemia was studied in 16 Africans diagnosed with FH. DNA analysis using three screening methods resulted in the identification of seven different mutations in the coding region of the low density lipoprotein (LDLR) gene in 10 of the patients analysed. These included a 6 bp deletion (GCGATG) accounting for 28% of defective alleles, and six point mutations (D151H, R232W, R385Q, E387K, P678L, and R793Q) detected in single families. The Sotho patient with missense mutation R232W was also heterozygous for a de novo splicing defect 313+1G-->A. Several silent mutations/polymorphisms were detected in the LDLR and apolipoprotein B genes, including a base change (g-->t) at nucleotide position -175 in the FP2 LDLR regulatory element. This promoter variant was detected at a significantly higher (p<0.05) frequency in FH patients compared to controls and occurred in cis with mutation E387K in one family. Analysis of four intragenic LDLR gene polymorphisms showed that the same chromosomal background was identified at this locus in the four FH patients with the 6 bp deletion. Detection of the 6 bp deletion in Xhosa, Pedi, and Tswana FH patients suggests that it is an ancient mutation predating tribal separation approximately 3000 years ago.

High levels of background flora inhibits growth of Escherichia coli O157:H7 in ground beef.

The influence of natural background flora under aerobic and anaerobic incubation on the growth of Escherichia coli O157:H7 in ground beef was investigated. The background flora from eight different commercial ground beef were added to ground beef spiked with E. coli O157:H7 and stored either aerobically or anaerobically at 12 degrees C. The results showed that the presence of a large number of background bacteria in the ground meat inhibited the growth of E. coli O157:H7 both aerobically and anaerobically. Inhibition was more pronounced under anaerobic conditions. The background floras consisted mainly of lactic acid bacteria of which approximately 80% were Lactobacillus sakei. These results show the importance of the natural background flora in meat for inhibition of growth of E. coli O157:H7.

The storage life of beef and pork packaged in an atmosphere with low carbon monoxide and high carbon dioxide.

Ground beef, beef loin steaks and pork chops were packaged in modified atmospheres of 0.4% CO/60% CO(2)/40% N(2) and 70% O(2)/30% CO(2). In addition ground beef was packaged in clipped chub packs, beef loin steaks were vacuum packaged, and pork chops were packaged in an atmosphere of 60% CO(2)/40% N(2) with each pack containing an O(2) absorber. The packs were stored in the dark at 4 or 8°C for up to 21 days. Meat in 0.4% CO/60% CO(2)/40% N(2) had a stable bright red colour that lasted beyond the time of spoilage. The storage lives in this gas mixture at 4°C, as limited by off-odours, were 11, 14 and 21 days for ground beef, beef loin steaks and pork chops, respectively. The 70% O(2)/30% CO(2) atmosphere resulted in an initially bright red to red colour of the meat, but the colour was unstable and off-odours developed rapidly. The off-odours probably were caused by Brochothrix thermosphacta, which grew in all meat types, or by pseudomonads in ground beef. Meat stored in chub packs, vacuum packs or 60% CO(2)/40% N(2) with an O(2) absorber developed off-odours and microflora similar to those of meat in 0.4% CO/60% CO(2)/40% N(2), but with less acceptable appearances. These results show that a low CO/high CO(2) atmosphere is effective for preserving retail-ready meat. ©

Mutation screening of the LDLR gene and ApoB gene in patients with a phenotype of familial hypercholesterolemia and normal values in a functional LDL receptor/apolipoprotein B assay.

Mutations in the LDL receptor (LDLR) or the apolipoprotein B-100 genes causing familial hypercholesterolemia (FH) and familial defective apolipoprotein B-100 (FDB), two of the most frequent inherited diseases, are the underlying genetic defects in a small proportion of patients suffering from premature atherosclerotic heart disease. Consequently, secure diagnostic tools for these conditions allowing early preventive measures are needed. Since clinical and biochemical diagnosis often is inaccurate, assays analyzing patient LDLR function and LDL affinity have been established. These assays are, however, not able clearly to differentiate between suspected FH/FDB samples and normal controls. To evaluate if this may be caused by other hitherto undescribed genetic defects or to failure of the functional assays, we undertook denaturing gradient gel electrophoresis based mutation screening of the LDLR gene and the codon 3456 3553 region of the apolipoprotein B gene in six French FH/FDB patients with normal outcomes on functional assays. In all six patients, pathogenic LDLR mutations were found, including three previously undescribed mutations, suggesting that failure of the functional assays explains the normal results found in some phenotypic FH/FDB patients and illustrating the need for DNA based screening techniques for routine genetic diagnosis in FH/FDB.