Interaction of - α 3.7, ? Thalassemia Mutation IVS 1-5 and HbD Punjab in a Family: A Case Report

Hemoglobin D exist in four form; HbD trait, HbD-thalassemia, HbD sickle cell and HbD homozygous. HbD trait and HbD homozygous generally asymptomatic condition but when HbD co-inherit with thalassemia and sickle cell anemia, produces clinically significant conditions like chronic hemolytic anemia. Here we present a case of HbD Punjab with α 3.7 kb deletion and IVS-1-5 β-thalassemia across a family. Diagnosis of HbD patient was performed by high performance liquid chromatography and complete blood count was measured by automated cell analyzer. Molecular study for common alpha deletions done by Gap-PCR while beta thalassemia mutation identified by ARMS-PCR. Case was clinically significant due to the inheritance of HbD/β⁺thalassemia genotype. Thus observed case behaved like thalassemia intermedia due to co-existence of α 3.7 deletions with IVS 1-5 β-thalassemia mutation in HbD Punjab patient.     

Diagnosis of Sanfilippo Disease Correlating Clinical, Radiological and Biochemical Findings–A Case Report

Mucopolysaccharidoses (MPS) are a group of genetic diseases and its diagnosis is a challenging task due to multiple differential diagnosis. We had combined clinical findings, radiological and ophthalmological features. Biochemical test for urine glycosaminoglycans (GAG) was done for confirmation of diagnosis in the patient. The case of Sanfilippo disease was characterized by slowly progressive, severe CNS involvement with mild somatic disease. Radiological features were suggestive of Sanfilippo disease and urine GAG test for MPS was positive in the case. With the clinical features we had multiple differential diagnoses. The radiological investigations minimized the list and the biochemical test confirmed GAG in urine. In this case the combination of clinical, radiological and biochemical findings confirmed the diagnosis of Sanfilippo disease.     

Hypocalcemia in an 11 Year Old Child: <Emphasis Type="Italic">A Difficult Case to Treat</Emphasis>

Hypocalcemia is a laboratory and clinical abnormality that is observed especially in neonates and paediatric patients. Laboratory hypocalcaemia is often asymptomatic but it can manifest as central nervous system irritability, paraesthesia, tetany (i.e. contraction of hands, arms, feet, larynx, bronchioles), seizures, and even psychiatric changes in children. Cardiac function may also be impaired because of poor muscle contractility. We report a unique case of an eleven year old male child who presented with chronic kidney disease associated with severe hypocalcemia, tonic-clonic seizures, hypovitaminosis D but normal electroencephalogram and electrocardiography. The child required prolonged intravenous calcium gluconate therapy to correct his ionised calcium levels.     

Helping with inquiries or helping with profits? The trials and tribulations of a technology of forensic reasoning

The commercialization of forensic scientific provision in the UK over the last two decades has had a major role in shaping a changing epistemic identity for forensic scientists working within this jurisdiction. Efforts to match the presumed epistemological standards of the 'pure' sciences have been brought together with concerns about value for money in a new approach to the interpretation of evidence, an activity that lies at the heart of criminal investigative practice. A study of the Case Assessment and Interpretation method developed by members of the UK Forensic Science Service is used to show how a technical innovation in the delivery of forensic science services to the police has instantiated these two recent social processes.     

Can the inerter be a successful shock-absorber? The case of a ball-screw inerter with a variable thread lead

This paper investigates an application of a ball-screw inerter for mitigation of impact loadings. The problem of impact absorption is to provide a minimum reaction force that optimally decelerates and eventually stops an impacting object within the available absorber stroke. It significantly differs from vibration mitigation problems which are typical application of inerters. The paper demonstrates that the optimum absorption can be achieved by fully passive means. For known values of the object mass and inerter parameters, the obtained solution is independent of the impact velocity. The optimum passive absorption is achieved by employing a variable thread lead. As a result, two force components emerge, the typical inertance-related force and a damping-like term, and sum up to provide the optimum constant deceleration force. This result is relatively unique: conventional absorbers do not provide a constant force even with complex active control systems. Finally, an optimization problem is formulated to reduce the influence of process uncertainties (range of possible mass values, unknown friction). The results are verified and analyzed in a numerical example.     

Untangling the mystery of absorptive capacity: A process or a set of success factors?

The absorptive capacity of an organization is its ability to translate the knowledge sourced from outside into commercial benefits. Having gained a certain academic interest, the mechanism of the absorptive capacity phenomenon is still puzzling. This paper provides some limited confirmation of earlier frameworks; however, absorptive capacity is demonstrated to be a set of interrelated success factors rather than a sequential process of knowledge articulation in a company. The new model of absorptive capacity proposed encompasses four dimensions: continuing development, bottom-up innovation, trust-based internal cooperation, and deferred knowledge use. The continuing development facet entails a strong positive impact on organizational performance, while the bottom-up innovation dimension deteriorates it. Trust-based internal cooperation and deferred knowledge use report mixed results.     

Science transformed? A comparative analysis of ‘societal relevance’ rhetoric and practices in 14 Canadian Networks of Centres of Excellence

One of the most hotly debated ideas in science studies is the claim that contemporary science is in the midst of a transformation. While ‘transformationalist’ arguments and concepts vary, their core principle is that the norms, values and practices that have enforced the separation of science from society are being challenged by new expectations that scientists pursue closer connections with industry, government and/or civil society, and address research questions of immediate value to non-academic partners. While many major funding agencies have embraced this idea and now pressure scientists to enhance the ‘societal relevance’ of their work, the impact of these changes on scientific practices is still unclear. This paper reports findings from a comparative meso-level analysis of 14 large Canadian research networks funded by an agency with an explicit transformationalist mandate – the Networks of Centres of Excellence (NCE) programme. Documents and web communications from these 14 NCEs, as well as from the central programme administration office, are analysed and compared to key transformationalist concepts, such as Mode 2 science, post-normal science, the triple helix model, academic capitalism and strategic science. We find that transformationalist ideas have a strong rhetorical presence across the 14 NCE projects and the central office, but that a great deal of inconsistency and confusion exists at the level of implementation and assessment of outcomes. Easily quantifiable outputs, such as the commercialization of research findings, are favoured over softer qualitative outcomes, such as public engagement and knowledge sharing. We conclude by arguing that the NCE programme is having an observable impact on the rhetoric of science, but any resulting transformations in practice are incremental rather than radical.     

Are patents with multiple inventors from different countries a good indicator of international R&D collaboration? The case of ABB

Based on the critical case of ABB, this paper questions the relevance of using patents with multiple inventors from different countries (“cross-country patents”) as an indicator of international R&D collaboration. The study shows that less than half of ABB's cross-country patents are the result of international R&D collaboration as described by one of the more inclusive definitions found in previous literature. Only a third of the patents are the result of joint R&D activities between different MNC subsidiaries or firms. We also discuss the implications of our study for the assignment of patents to countries based on inventor addresses.     

The use of material transfer agreements in academia: A threat to open science or a cooperation tool?

The transfer of scientific material and data, which are scientific inputs, is fundamental to knowledge creation dynamics. This transfer is being controlled, more and more, by the use of Material Transfer Agreements (MTAs). Therefore, the effect of MTAs on the dynamic of knowledge creation is an important concern. The aim of this research is to characterise the restrictions imposed by MTAs, and their determinants. We consider MTA diversity based on a comprehensive analysis of the clauses included in 171 MTAs signed by two French universities. We show that the clauses included in MTAs depend on several factors such as kind of material involved, research field, patenting and collection of material. We find that the presence of an industry actor is not associated to more restrictions on publication and intellectual property. We propose a typology of MTAs corresponding to different transfer situations. We discuss the role of MTAs as collaborative tools and the influence of the legal, scientific, political and organisational context.     

A question worth a million: The expert,the crowd,or myself? An investigation of problem solving

In an era of rapid technological advances, individuals have access to a plethora of open and closed forms of problem solving. We introduce and test a framework that compares different forms of problem solving and determines how individuals make choices among them. Our analyses of 4,556 problems solved by 398 individuals reveal that high problem complexity and strong implicit social norms of open exchange increase the probability that individuals will seek external solutions rather than solve the problems themselves. Our analysis also shows that they prefer individual experts (contacted directly or via open call) over aggregated crowd knowledge. We also find that strong implicit social norms of open exchange weakened the positive impact of complexity on the probability of solving problems externally. Interestingly, this effect is more subtle when the use of aggregated crowds is compared with individual experts: while strong implicit social norms strengthen the positive impact of problem complexity when experts are contacted directly, they otherwise weaken the use of open call experts. We discuss and examine the nuanced effects between problem complexity and social norms of open exchange. The study contributes to a stream of the open innovation literature that uses a problem solving perspective to better understand under what circumstances certain forms of problem solving are utilized, and it then combines it with a novel empirical setting based on real-life experimental data.     

Could machine learning be a general purpose technology? A comparison of emerging technologies using data from online job postings

Many emerging technologies have aspects of General Purpose Technologies (GPTs). However, true GPTs are rare and hold potential for large-scale economic impact. Thus, it is important for policymakers and managers to assess which emerging technologies are likely GPTs. We describe an approach that uses data from online job ads to rank emerging technologies on their GPT likelihood. The approach suggests which technologies are likely to have a broader economic impact, and which are likely to remain useful but narrower enabling technologies. Our approach has at least 5 years predictive power distinct from prevailing patent-based methods of identifying GPTs. We apply our approach to 21 different emerging technologies, and find that a cluster of technologies comprised of machine learning and related data science technologies is relatively likely to be a GPT.     

Co-inheritance of HbD Iran/Beta Thalassemia IVS1–5 (G?>?C) Trait in a Punjabi Lady with Diabetes

The present report describes the molecular study of HbD ^Iran (beta) 22 Glu → Gln associated with β-Thalassemia IVS1–5 (G > C) found in India, and the first case in which mutation has been identified using mass spectrometry. Given the apparent ethnic origin and the mobility of the variant hemoglobin at alkaline pH, hemoglobin D-Punjab would be suspected, but HPLC excluded this possibility. Further characterization of hemoglobinopathy was made by using nondenaturing gel electrophoresis and matrix assisted laser desorption ionization mass spectrometry and IVS1–5 being validated by reverse dot blot hybridization followed by sequencing of the β-globin gene.     

Is sympatric speciation in nature only possible with micro-parapatry? A new case study of glacial lake cyprinid fishesOA

<正>Although numerous theoretical models of the feasibility and necessary conditions for sympatric speciation abound in the literature,clear-cut examples in nature remain elusive.And,as always in speciation research,this statement strongly depends on your definition of sympatric speciation [1-3].If using the biogeographic definition of sympatric speciation as divergence between individuals in a population within’cruising range’of each other [4],