Preconceptional genetic carrier testing and the commercial offer directly-to-consumers

Recently, a number of commercial companies are offering preconceptional carrier tests directly-to-consumers. This offer raises a number of concerns and issues above and beyond those encountered with preconceptional tests offered within the traditional health care setting. In order to bring some of these issues to light and to initiate dialogue on this topic, this article discusses the following issues: the current offer of preconceptional carrier tests (until the end of 2010) through online commercial companies; the implications for the informed consent procedure and the need for good information; the need for medical supervision and follow-up; and the appropriate use of existing resources. The article concludes with some reflections about the potential sustainability of the offer of preconceptional carrier tests directly-to-consumers

Fish Movement and Dietary History Derived from Otolith (delta)13C

Habitat use and food web linkages are critical data for fish conservation and habitat restoration efforts, particularly for threatened salmonids species. Otolith microchemistry has been shown to be a powerful tool for reconstructing fish movement, but over small distances (kilometers), geology-derived differences in otolith chemistry are rare. Here, we demonstrate that otolith {sup 13}C/{sup 12}C ratio (i.e. {delta}{sup 13}C) of anadromous steelhead trout can be used to distinguish residence in small streams from residence in larger streams and rivers. While previous research has shown that water dissolved inorganic carbon {delta}{sup 13}C is the primary source of carbon in otoliths, the downstream change in food {delta}{sup 13}C in this watershed appears to be the primary control on otolith {delta}{sup 13}C. As a result, this method can also be applied to the problem of reconstructing feeding history at a location

Maximizing Laboratory Production of Aflatoxins and Fumonisins for Use in Experimental Animal Feeds

Warm and humid climatic conditions coupled with poor agricultural practices in sub-Saharan Africa favor the contamination of food and feed by Aspergillus flavus and Fusarium verticillioides fungi, which subsequently may produce aflatoxins (AFs) and fumonisins (FBs), respectively. The growth of fungi and the production of mycotoxins are influenced by physical (temperature, pH, water activity, light and aeration), nutritional, and biological factors. This study aimed at optimizing the conditions for the laboratory production of large quantities of AFs and FBs for use in the animal experiments. A. flavus and F. verticillioides strains, previously isolated from maize in Kenya, were used. Levels of AFB1 and total FBs (FB1, FB2, and FB3) in different growth substrates were screened using ELISA methods. Maize kernels inoculated with three different strains of A. flavus simultaneously and incubated at 29 degrees C for 21 days had the highest AFB1 level of 12,550 +/- 3397 mu g/kg of substrate. The highest level of total FBs (386,533 +/- 153,302 mu g/kg of substrate) was detected in cracked maize inoculated with three different strains of F. verticillioides and incubated for 21 days at temperatures of 22-25 degrees C in a growth chamber fitted with yellow light. These two methods are recommended for the mass production of AFB1 and FBs for animal feeding trials

A novel method to develop an otolith microchemistry model to determine striped bass habitat use in the San Francisco Estuary

Otolith Sr/Ca has become a popular tool for hind casting habitat utilization and migration histories of euryhaline fish. It can readily identify habitat shifts of diadromous fish in most systems. Inferring movements of fish within estuarine habitat, however, requires a model of that accounts of the local water chemistry and the response of individual species to that water chemistry, which is poorly understood. Modeling is further complicated by the fact that high marine Sr and Ca concentrations results in a rapid, nonlinear increase in water Sr/Ca and {sup 87}Sr/{sup 86}Sr between fresh and marine waters. Here we demonstrate a novel method for developing a salinity-otolith Sr/Ca model for the purpose of reconstructing striped bass (Morone saxatilis) habitat use in the San Francisco Bay estuary. We used correlated Sr/Ca and {sup 87}Sr/{sup 86}Sr ratios measurements from adult otoliths from striped bass that experienced a range of salinities to infer striped bass otolith Sr/Ca response to changes in salinity and water Sr/Ca ratio. Otolith {sup 87}Sr/{sup 86}Sr can be assumed to accurately record water {sup 87}Sr/{sup 86}Sr because there is no biological fractionation of Sr isotopes. Water {sup 87}Sr/{sup 86}Sr can in turn be used to estimate water salinity based on the mixing of fresh and marine water with known {sup 87}Sr/{sup 86}Sr ratios. The relationship between adjacent analyses on otoliths of Sr/Ca and {sup 87}Sr/{sup 86}Sr by LA-ICP-MS and MC-ICP-MS (r{sup 2} = 0.65, n = 66) is used to predict water salinity from a measured Sr/Ca ratio. The nature of this non-linear model lends itself well to identifying residence in the Delta and to a lesser extent Suisun Bay, but does not do well locating residence within the more saline bays west of Carquinez Strait. An increase in the number of analyses would improve model confidence, but ultimately the precision of the model is limited by the variability in the response of individual fish to water Sr/Ca

Tele-methylhistamine 1 distribution in rat brain

Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/65997/1/j.1471-4159.1979.tb02303.x.pd

Tracheal agenesis: approach towards this severe diagnosis. Case report and review of the literature

Tracheal agenesis (TA) is a severe congenital disorder with often an unexpected emergency presentation. There is complete or partial absence of the trachea below the larynx, with presence or absence of a tracheoesophageal fistula (TOF). A neonate with TA is described, and another 48 cases found in literature are reviewed. Due to absence of a TOF, five cases were diagnosed prenatally because of congenital high airway obstruction syndrome (CHAOS). When a TOF is present, polyhydramnion and several other congenital malformations seen on the ultrasound examination should alert clinicians of potential tracheal problems. Prenatal magnetic resonance imaging (MRI) may provide a definitive diagnosis. Postnatal diagnosis is based on recognition of specific clinical signs in the newborn with TA: respiratory distress with breathing movement without appropriate air entry, no audible cry, and failed endotracheal intubation. Despite progress in surgical interventions, mortality remains high. Prenatal diagnosis of TA is possible, but only if a TOF is absent resulting in CHAOS. Prenatal diagnosis of polyhydramnion and other congenital malformation should alert clinicians of potential tracheal problems. Prenatal MRI may provide a definitive diagnosis

Responsible implementation of expanded carrier screening.

This document of the European Society of Human Genetics contains recommendations regarding responsible implementation of expanded carrier screening. Carrier screening is defined here as the detection of carrier status of recessive diseases in couples or persons who do not have an a priori increased risk of being a carrier based on their or their partners' personal or family history. Expanded carrier screening offers carrier screening for multiple autosomal and X-linked recessive disorders, facilitated by new genetic testing technologies, and allows testing of individuals regardless of ancestry or geographic origin. Carrier screening aims to identify couples who have an increased risk of having an affected child in order to facilitate informed reproductive decision making. In previous decades, carrier screening was typically performed for one or few relatively common recessive disorders associated with significant morbidity, reduced life-expectancy and often because of a considerable higher carrier frequency in a specific population for certain diseases. New genetic testing technologies enable the expansion of screening to multiple conditions, genes or sequence variants. Expanded carrier screening panels that have been introduced to date have been advertised and offered to health care professionals and the public on a commercial basis. This document discusses the challenges that expanded carrier screening might pose in the context of the lessons learnt from decades of population-based carrier screening and in the context of existing screening criteria. It aims to contribute to the public and professional discussion and to arrive at better clinical and laboratory practice guidelines.European Journal of Human Genetics advance online publication, 16 March 2016; doi:10.1038/ejhg.2015.271

A heuristic method for determining CO2 efficiency in transportation planning

Background CO2 emissions are generally considered the most important indicator to determine the global warming effects. Their evaluation in the case of a transportation infrastructure is generally not easy and could be achieved through a separate balance

Recent advances in structure and function of cytosolic IMP-GMP specific 5′nucleotidase II (cN-II)

Cytosolic 5′nucleotidase II (cN-II) catalyses both the hydrolysis of a number of nucleoside monophosphates (e.g., IMP + H2O→inosine + Pi), and the phosphate transfer from a nucleoside monophosphate donor to the 5′position of a nucleoside acceptor (e.g., IMP + guanosine →inosine + GMP). The enzyme protein functions through the formation of a covalent phosphoenzyme intermediate, followed by the phosphate transfer either to water (phosphatase activity) or to a nucleoside (phosphotransferase activity). It has been proposed that cN-II regulates the intracellular concentration of IMP and GMP and the production of uric acid. The enzyme might also have a potential therapeutic importance, since it can phosphorylate some anti-tumoral and antiviral nucleoside analogues that are not substrates of known kinases. In this review we summarise our recent studies on the structure, regulation and function of cN-II. Via a site-directed mutagenesis approach, we have identified the amino acids involved in the catalytic mechanism and proposed a structural model of the active site. A series of in vitro studies suggests that cN-II might contribute to the regulation of 5-phosphoribosyl-1-pyrophosphate (PRPP) level, through the so-called oxypurine cycle, and in the production of intracellular adenosine, formed by ATP degradation

Prenatal hypoxia induces increased cardiac contractility on a background of decreased capillary density.

Background: Chronic hypoxia in utero (CHU) is one of the most common insults to fetal development and may be associated with poor cardiac recovery from ischaemia-reperfusion injury,yet the effects on normal cardiac mechanical performance are poorly understood. Methods: Pregnant female wistar rats were exposed to hypoxia (12% oxygen, balance nitrogen)for days 10–20 of pregnancy. Pups were born into normal room air and weaned normally. At 10 weeks of age, hearts were excised under anaesthesia and underwent retrograde 'Langendorff' perfusion. Mechanical performance was measured at constant filling pressure (100 cm H2O) with intraventricular balloon. Left ventricular free wall was dissected away and capillary density estimated following alkaline phosphatase staining. Expression of SERCA2a and Nitric Oxide Synthases (NOS) proteins were estimated by immunoblotting. Results: CHU significantly increased body mass (P < 0.001) compared with age-matched control rats but was without effect on relative cardiac mass. For incremental increases in left ventricular balloon volume, diastolic pressure was preserved. However, systolic pressure was significantly greater following CHU for balloon volume = 50 μl (P < 0.01) and up to 200 μl (P < 0.05). For higher balloon volumes systolic pressure was not significantly different from control. Developed pressures were correspondingly increased relative to controls for balloon volumes up to 250 μl (P < 0.05).Left ventricular free wall capillary density was significantly decreased in both epicardium (18%; P <0.05) and endocardium (11%; P < 0.05) despite preserved coronary flow. Western blot analysis revealed no change to the expression of SERCA2a or nNOS but immuno-detectable eNOS protein was significantly decreased (P < 0.001) in cardiac tissue following chronic hypoxia in utero. Conclusion: These data offer potential mechanisms for poor recovery following ischaemia, including decreased coronary flow reserve and impaired angiogenesis with subsequent detrimental effects of post-natal cardiac performance