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Genetic testing for large-caliber vessel aneurysms

; variations in other genes not investigated by the present test. Unexpected Unexpected results may emerge from the test, for example information regarding consanguinity, absence of family correlation or other genetically-based diseases. Risk for progeny If the identified pathogenic variant has autosomal dominant transmission, the probability that an affected carrier transmit the disease variant to his/her children is 50% in any pregnancy, irrespective of the sex of the child conceived. In autosomal recessive mutations, both parents are usually healthy

Open access
Low Anisakis-specific IgE prevalence in dyspeptic patients in Italy – a retrospective study

chronic GI symptoms (dyspepsia, colic pain, or complicate in acute abdomen) ( 2 ). The upper GI tract, such as stomach and duodenum, is the section more commonly affected by the infection ( 3 ). However, there have been reports of cases involving the ascending colon and the sigma ( 4 ). Infection of the sigmoid colon is considered a risk factor for the development of colorectal cancer ( 5 ). The aims of this study were to determine the serum prevalence of anti- Anisakis IgE in patients reporting chronic or acute GI symptoms and to investigate the correlation with

Open access
Lachish River event monitored for toxicity using bioluminescent reporter organisms

Abstract

The Lachish River has suffered from recurring pollution incidents for the past decade. On October 11th, 2017, another contamination in the river was sighted, as thousands of dead fish were found floating. Samples from the river were retrieved and tested through a whole cell bioluminescent bacterial bioreporter system as well as conventional analytical methods, and the results from both methods were analyzed and compared, even though initially these two collecting events were not coordinated. The information acquired from the whole cell reporter was consistent with that obtained from conventional methods. Both approaches indicated a large concentration of microorganisms as deduced from K802NR E. coli strain reaction and coliforms count. The high water conductivity measured in collected samples were closer downstream, and attributed to the diffusion of salts from the Mediterranean Sea which affected bacterial viability as seen from the decreased reaction of E. coli strains TV1061 and DPD2794. In addition, the bacterial indicators’ kinetic patterns have shown indication for the presence of a genotoxic substance from only one of the collection sites, which was tested positive for the herbicide Metazachlor, itself known to have genotoxic effects. The correlation between both approaches, along with the biosensor’s ability to assess biological influences, suggests that the whole cell bioluminescent bacterial bioreporter bioassay as an easy, simple and efficient approach for water toxicity monitoring.

Open access
Controlling beer filtration process through implementation of enzymatic and microbiological techniques

Abstract

The best practice for filtration optimization process is to control biological and non biological particles at every stage of beer chain production. There are several processes that can be used to control beer filtration process, such as settlement of non-biological and biological particles through sedimentation, centrifugation, extended stabilization periods, addition of flocculants and clarifiers to reduce both, yeast and haze loadings etc. Filtration process is controlled by yeast, proteins and carbohydrates. Cell yeast number in suspension determines which is going to dominate filtration process. If yeast cell number is less than a million, filterability is dependent mainly from physico-chemical beer characteristics, otherwise biological phase control filtration process. In this paper we have proposed some enzymatic and yeast management techniques to improve filtration process. Experiments were carried out in laboratory and industrial scale. There were used free and immobilized enzymes and yeast. It was noticed a good correlation between laboratory and industrial application findings. Immobilized yeast in batch processes not only make easier yeast management but also increase beer filterability, excluding some energy consuming processes like centrifugation and long conditioning time

Open access
Genetic testing for lymphedema in RASopathies

clinical diagnosis but suggests the possibility of: alterations that cannot be identified by sequencing, such as large rearrangements that cause loss (deletion) or gain (duplication) of extended gene fragments; sequence variations in gene regions not investigated by this test, such as regulatory regions (5’ and 3’ UTR) and deep intronic regions; variations in other genes not investigated by the present test. Unexpected Unexpected results may emerge from the test, for example information regarding consanguinity, absence of family correlation or other

Open access
Genetic testing for lymphatic malformations with or without primary lymphedema

rearrangements that cause loss (deletion) or gain (duplication) of extended gene fragments. Sequence variations in genomic regions not investigated by the test, such as regulatory regions, 5’- and 3’-UTR) and deep intronic regions. Variations in other genes not investigated by the present test. Unexpected Unexpected results may emerge from the test, for example information regarding consanguinity, absence of family correlation or other genetically-based diseases. Risk for progeny If the identified pathogenic variant has autosomal dominant transmission, the

Open access
Total nitrogen, water-soluble nitrogen and free amino acids profile during ripening of soft cheese enriched with Nigella sativa seed oil

of Serra da Estrela cheese. FAA content of experimental cheeses Bacterial peptidases release free amino acids (FAA) (secondary proteolysis), which contribute directly to the cheese flavor, but also indirectly through their metabolism by microbial amino acid converting enzymes, which is considered to be one of the main flavor pathways ( 38 , 39 ). On the other hand, Sousa et all consider that a direct correlation between the concentration of FAA and cheese flavor cannot be established, since different types of cheeses have similar relative proportions of

Open access
What does the water inside the brain tell us? Diffusion tensor imaging

× 3 matrix that is calculated for each voxel. This tensor can fully define the correlation between these directions and the molecular mobility along each direction. To get this directional information, additional diffusion-weighted images along several gradient directions have to be taken using diffusion-sensitized MR imaging pulse sequences ( 5 ). DTI sequences involve in spin-echo sequence with single-shot, echo-planar acquisition. The most common parameters derived from the diffusion tensor in postprocessing of the diffusion-weighted images are the fractional

Open access
Genetic testing for cerebral cavernous malformations

consanguinity, absence of family correlation or other genetically-based diseases. Risk for progeny In autosomal dominant transmission, the probability that an affected carrier transmit the variant to his/her children is 50% in any pregnancy, irrespective of the sex of the child conceived. Limits of the test The test is limited by current scientific knowledge regarding the gene and disease. Analytical sensitivity (proportion of positive tests when the genotype is truly present) and specificity (proportion of negative tests when the genotype is not present

Open access
Genetic testing for pulmonary stenosis

fragments; sequence variations in gene regions not investigated by this test, such as regulatory regions (5’ and 3’ UTR) and deep intronic regions; variations in other genes not investigated by the present test. Unexpected Unexpected results may emerge from the test, for example information regarding consanguinity, absence of family correlation or other genetically based-diseases. Risk for progeny If the identified pathogenic variant has autosomal dominant transmission, the probability that an affected carrier transmit the disease variant to his

Open access