Familial idiopathic methemoglobinemia revisited: original cases reveal 2 novel mutations in NADH cytochrome b5 reductase

In 1943, the first description of familial idiopathic methemoglobinemia in the United Kingdom was reported in 2 members of one family. Five years later, Quentin Gibson (then of Queen's University, Belfast, Ireland) correctly identified the pathway involved in the reduction of methemoglobin in the family, thereby describing the first hereditary trait involving a specific enzyme deficiency. Recessive congenital methemoglobinemia (RCM) is caused by a deficiency of reduced nicotinamide adenine dinucleotide (NADH)-cytochrome b5 reductase. One of the original propositi with the type 1 disorder has now been traced. He was found to be a compound heterozygote harboring 2 previously undescribed mutations in exon 9, a point mutation Gly873Ala predicting a Gly291Asp substitution, and a 3-bp in-frame deletion of codon 255 (GAG), predicting loss of glutamic acid. A brother and a surviving sister are heterozygous; each bears one of the mutations. Thirty-three different mutations have now been recorded for RCM. The original authors' optimism that RCM would provide material for future genetic studies has been amply justified.

Optimization of Cement Grouts Containing Silica Fume and Viscosity Modifying Admixture

There is an increasing need to identify the effect of mix composition on the rheological properties of cementitious grouts using minislump, Marsh cone, cohesion plate, washout test, and cubes to determine the fluidity, the cohesion, and other mechanical properties of grouting applications. Mixture proportioning involves the tailoring of several parameters to achieve adequate fluidity, cohesion, washout resistance and compressive strength. This paper proposes a statistical design approach using a composite fractional factorial design which was carried out to model the influence of key parameters on the performance of cement grouts. The responses relate to performance included minislump, flow time using Marsh cone, cohesion measured by Lombardi plate meter, washout mass loss and compressive strength at 3, 7, and 28 days. The statistical models are valid for mixtures with water-to-binder ratio of 0.37–0.53, 0.4–1.8% addition of high-range water reducer (HRWR) by mass of binder, 4–12% additive of silica fume as replacement of cement by mass, and 0.02–0.8% addition of viscosity modifying admixture (VMA) by mass of binder. The models enable the identification of underlying factors and interactions that influence the modeled responses of cement grout. The comparison between the predicted and measured responses indicated good accuracy of the established models to describe the effect of the independent variables on the fluidity, cohesion, washout resistance and the compressive strength. This paper demonstrates the usefulness of the models to better understand trade-offs between parameters. The multiparametric optimization is used to establish isoresponses for a desirability function for cement grout. An increase of HRWR led to an increase of fluidity and washout, a reduction in plate cohesion value, and a reduction in the Marsh cone time. An increase of VMA demonstrated a reduction of fluidity and the washout mass loss, and an increase of Marsh cone time and plate cohesion. Results indicate that the use of silica fume increased the cohesion plate and Marsh cone, and reduced the minislump. Additionally, the silica fume improved the compressive strength and the washout resistance.

Determining Propeller Erosion at the Stern of a Berthing Ship

This paper presents the findings from an experimental investigation in to the nature and extent of the scouring that occurs when a ship berths in front of a perpendicular quay wall within the confines of a harbor. It examines the interaction between the relative position of the quay wall to the central axis of the ship and the influence of angle of the vessel's rudder on the magnitude of the scouring produced. The experimental programme covered a range of sediment sizes, propeller diameters and speeds of rotation and rudder angles. Also, methods for calculating the depth of expected scour are presented in terms of initial semi-empirical equations for the data range under investigation.

The Creative Life of Law: Improvisation, Between Tradition and Suspicion

Originally applying solely to chefs, waiters, dishwashers and the like, New York City (NYC) regulations governing cabaret employees were altered in 1943 to include musicians and entertainers, who until the late 1960’s would be required to hold a NYC Cabaret Employee’s Identification Card. The introduction of these notorious “police cards” occurred roughly contemporaneously to the emergence in after-hours night clubs in Harlem of a new and supposedly “wild”, improvisatory brand of jazz: bebop. This article adds to the many rather practical theories on why these cards were introduced a more abstract discussion coined in terms of the relationship between suspicion and tradition and focusing on differing essences of law and improvisatory jazz. While law breathes tradition and is suspicious of improvisation and unpredictability, the converse is true of jazz. Allusion to tradition in jazz improvisation is often viewed as a betrayal of its creative and spontaneous nature. And yet it is only through its departure from the stable transmission of past meaning that improvisation gains meaning. Law, in contrast, while appearing to be entirely composed of tradition, to transmit some sort of determinate and fixed meaning, is constantly betraying itself. As no two legal actions can be exactly the same, judges must improvise on tradition and past precedent every time they are asked to decide a case. Law can thus neither dispense with nor be completely determined by tradition. The legal decision instead lies on the border between what it “is” and what it otherwise could be and every judicial act is, in some sense, a species of improvisation. This article uses the cabaret cards to explore this uncertain terrain between law and improvisation, between tradition and suspicion.

Maturity Model for Supply Chain Relationships in Construction

This study explores the special characteristics of the construction industry and develops a maturity model for measuring and improving the relationships between the key players of a construction supply chain. The model adopts the capability maturity methodology and defines four maturity levels of construction supply chain relationships. It is in a matrix format, consisting of 24 assessment criteria in eight categories at each maturity level. It also provides three different ways of using the model. The model is evaluated through a series of expert interviews. A case study is also presented to demonstrate the application of this model in practice.

Africa’s prospects and South Africa’s leadership potential in the emerging markets century

This article examines Africa's role in an evolving international system where powerful emerging markets, such as bric, together with established powers are shaping economic trajectories. The specific focus is on South Africa as an aspiring leader on the African continent, and on its potential for becoming an emerging market shaping the global order together with bric and the West. It is unclear whether a changing global economy in which the postcolonial world plays a greater role will result in improved developmental prospects for Africans as African countries gradually reorient themselves from the West to the South, or whether relations with emerging markets will resemble neo-colonial ties with the West. South Africa's structural weakness, stemming from serious domestic problems of a social, political and economic nature, threatens to undermine its standing in Africa and its emerging market status.

Critical Success Factors for Transfer-Operate-Transfer Urban Water Supply Projects in China

Over the years, build-operate-transfer (BOT) has continuously attracted research interests. Many studies on BOT have been carried out. Variations of BOT such as build-own-operate-transfer and build-own-operate have also been reported in some relevant publications. However, few investigations thus far have been conducted for transfer-operate-transfer (TOT). Therefore, there is a knowledge gap in this particular field. TOT is a new model that is suitable for existing infrastructure and public utility projects formerly funded by the governments and currently operated by state-owned enterprises. It refers to the transfer of a running public project to a foreign business or domestic private entity. Based on four case studies carried out in the Chinese water supply industry, this paper examines why there is an increasing need for TOT projects and identifies the distinctive features of TOT practice in China. This is followed by an introduction of a framework of critical success factors (CSFs) for TOT projects. The most important factors include project profitability, asset quality, fair risk allocation, competitive tendering, internal coordination within government, employment of professional advisors, corporate governance, and government supervision. The identification of CSFs provides a useful guidance to project parties planning to participate in TOT practice.

Preliminary Development and Evaluation of Fiber-Optic Chemical Sensors

This paper could be consider seminal in the Civil Engineering field as it describes the first application of these sensors to a complex durability and management issue. For this reason it is potentially controversial as it requires Civil Engineers to re-evaluate the nature and scale of durability testing.

Developments in Performance Monitoring of Concrete Exposed to Extreme Environments

The performance of the surface zone of concrete is acknowledged as a major factor governing the rate of deterioration of reinforced concrete structures as it provides the only barrier to the ingress of water containing dissolved ionic species such as chlorides which, ultimately, initiate corrosion of the reinforcement. In-situ monitoring of cover-zone concrete is therefore critical in attempting to make realistic predictions as to the in-service performance of the structure. To this end, this paper presents developments in a remote interrogation system to allow continuous, real-time monitoring of the cover-zone concrete from an office setting. Use is made of a multi-electrode array embedded within cover-zone concrete to acquire discretized electrical resistivity and temperature measurements, with both parameters monitored spatially and temporally. On-site instrumentation, which allows remote interrogation of concrete samples placed at a marine exposure site, is detailed, together with data handling and processing procedures. Site-measurements highlight the influence of temperature on electrical resistivity and an Arrhenius-based temperature correction protocol is developed using on-site measurements to standardize resistivity data to a reference temperature; this is an advancement over the use of laboratory-based procedures. The testing methodology and interrogation system represents a robust, low-cost and high-value technique which could be deployed for intelligent monitoring of reinforced concrete structures.