Red cell glucose-6-phosphate dehydrogenase deficiency and haemoglobin variants among ten endogamous groups of Maharashtra and West Bengal

Over 900 individuals from ten endogamous groups in the Indian states of Maharashtra and West Bengal were studied for G-6-PD deficiency and haemoglobin variants. The incidence of G-6-PD varied from nil to 17.3%, while that of Hb-S varied from nil to 22.3%. In general, the tribal populations of Maharashtra are characterized by the presence of a high incidence of both Hb-S and G-6-PD deficiency. The caste Hindus showed an absence of Hb-S and rather low G-6-PD deficiency. Immigrant Parsis possessed the highest incidence of G-6-PD deficiency (17.3%)

Sociocultural problems in genetic counselling

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Quality engineering of a traction alternator by robust design

Robust design is an engineering methodology for improving productivity during research and development so that high-quality products can be developed and produced quickly and at low cost. A large electrical company was developing traction alternators for a diesel electrical engine. Customer requirement was to obtain very high efficiency which, in turn, was influenced by several design parameters. The usual approach of the 'design-build-test' cycle was considered time-consuming and costly; it used to take anywhere from 4 months to 1 year before finalizing the product design parameters as it involved physical assembly and also testing. Instead, the authors used Taguchi's parameter design approach. This approach took about 8 weeks to arrive at optimum design parameter values; clearly demonstrating the cutting edge of this methodology over the traditional design-build-test approach. The prototype built and tested accordingly gave satisfactory overall performance, meeting and even exceeding customer requirements

Towards biochemical fuel cells

A biochemical fuel cell is a device which converts chemical energy into electrical power. The catalysts used in this process can be either inorganic or organic type giving rise to 'inorganic fuel cells' or 'biochemical fuel cells', respectively. Biochemical fuel cells use either micro-organism or enzymes as active components to carry out electrochemical reactions. The efficiency of such a device theoretically can be as high as 90%. The difficulty in attaining these values arises due to sluggishness of electron transfer from active site to conducting electrode. This can be overcome by using mediators or by immobilizing active components on conducting electrode. We have immobilizedfad-glucose oxidase on a graphite electrode using a semiconducting chain as a bridge. At the present stage of development, such a device tacks high current densities, which is essential for commercial power generation but can be used in applications such as pacemakers and glucose sensors

Evaluation of Medical Officer Certificate Programme Course Competency Based Learning

Background: Medical Officer Certificate Programme (MOCP) is a 6 months training programme in Pediatrics/Medicine at medical colleges wherein doctors work like postgraduate students, learn various Out Patients and In Patient Department (OPD and IPD) procedures, attain hands on skills, perform day and night duties, attend postgraduate training programmes and specialty clinics. This is a course unique to Maharashtra. It has been designed to overcome shortage of Pediatricians and Physicians in the state. Objective: To evaluate the efficacy of MOCP courses for medical officers by finding out if their clinical skills have improved and if they have achieved expected level of competence. Methods: Public Health Department deputed 28 medical officers of primary health centers. At the end of 6 months training course, they were evaluated during 2012-2013. Results: OPD increased by 24% and IPD by 54%. There was a decrease in the number of cases referred to tertiary centers by 24%, post-MOCP training. Infant immunization increased by 35% after training. Number of children with severe acute malnutrition/moderate acute malnutrition treated increased by 22%, treatment of neonatal emergencies, resuscitation, sepsis, jaundice increased by 36%. Number of adults with diarrhoea and snake bite treated increased by 40% and 63% respectively. Number of ECGs taken and myocardial infarctions managed also has shown rising trend. Conclusion: There was tremendous benefit to the patients after MOCP training. Skill of doctors was found to have enhanced. It is therefore recommended that such novel trainings should be imparted in other states of India too

Ageing Contributes to Phenotype Transition in a Mouse Model of Periodic Paralysis

Background: Periodic paralysis (PP) is a rare genetic disorder in which ion channel mutation causes episodic paralysis in association with hyper- or hypokalaemia. An unexplained but consistent feature of PP is that a phenotype transition occurs around the age of 40, in which the severity of potassium-induced muscle weakness declines but onset of fixed, progressive weakness is reported. This phenotype transition coincides with the age at which muscle mass and optimal motor function start to decline in healthy individuals. We sought to determine if the phenotype transition in PP is linked to the normal ageing phenotype transition and to explore the mechanisms involved. Methods: A mouse model of hyperkalaemic PP was compared with wild-type littermates across a range of ages (13–104 weeks). Only male mice were used as penetrance is incomplete in females. We adapted the muscle velocity recovery cycle technique from humans to examine murine muscle excitability in vivo. We then examined changes in potassium-induced weakness or caffeine contracture force with age using ex vivo muscle tension testing. Muscles were further characterized by either Western blot, histology or energy charge measurement. For normally distributed data, a student's t-test (± Welch correction) or one- or two-way analysis of variance (ANOVA) was performed to determine significance. For data that were not normally distributed, Welch rank test, Mann Whitney U test or Kruskal–Wallis ANOVA was performed. When an ANOVA was significant (P < 0.05), post hoc Tukey testing was used. Results: Both WT (P = 0.009) and PP (P = 0.007) muscles exhibit increased resistance to potassium-induced weakness with age. Our data suggest that healthy-old muscle develops mechanisms to maintain force despite sarcolemmal depolarization and sodium channel inactivation. In contrast, reduced caffeine contracture force (P = 0.00005), skeletal muscle energy charge (P = 0.004) and structural core pathology (P = 0.005) were specific to Draggen muscle, indicating that they are caused, or at least accelerated by, chronic genetic ion channel dysfunction. Conclusions: The phenotype transition with age is replicated in a mouse model of PP. Intrinsic muscle ageing protects against potassium-induced weakness in HyperPP mice. However, it also appears to accelerate impairment of sarcoplasmic reticulum calcium release, mitochondrial impairment and the development of core-like regions, suggesting acquired RyR1 dysfunction as the potential aetiology. This work provides a first description of mechanisms involved in phenotype transition with age in PP. It also demonstrates how studying phenotype transition with age in monogenic disease can yield novel insights into both disease physiology and the ageing process itself

Electromyography and muscle biopsy in paediatric neuromuscular disorders – Evaluation of current practice and literature review

The conduct and interpretation of electromyography in children is considered difficult and therefore often avoided. We assessed the diagnostic accuracy of the paediatric electromyography protocol used in our tertiary reference centre and compared it to muscle biopsy results and clinical diagnosis. Electromyography was performed in unsedated children with suspected neuromuscular diseases between January 2010 and September 2017 and was analysed quantitatively. Muscle pathology was classified into seven groups based on existing histopathology reports. The clinical diagnosis, including myopathic, neurogenic and non-neuromuscular categories was used as the gold standard. 171 children between the age of 12 days to 17.4 years were included in the analysis. 41 children (24%) were under the age of 2 years at the time of electromyography. 98 (57%) children were diagnosed with a myopathic disorder, 18 (11%) with a neurogenic disease and 55 (32%) as not having a primary neuromuscular disorder. In detecting myopathic disease, electromyography performed as well as muscle biopsy (sensitivity 87.8% for electromyography vs. 84.5% for muscle biopsy; specificity 75.7% vs. 86.4%). This also applied to children under the age of 2 years (sensitivity 81.8% vs. 86.4%). Quantitative analysis of a limited electromyography protocol performed in unsedated children is a very valuable diagnostic tool

Vulnerability analysis of satellite-based synchronized smart grids monitoring systems

The large-scale deployment of wide-area monitoring systems could play a strategic role in supporting the evolution of traditional power systems toward smarter and self-healing grids. The correct operation of these synchronized monitoring systems requires a common and accurate timing reference usually provided by a satellite-based global positioning system. Although these satellites signals provide timing accuracy that easily exceeds the needs of the power industry, they are extremely vulnerable to radio frequency interference. Consequently, a comprehensive analysis aimed at identifying their potential vulnerabilities is of paramount importance for correct and safe wide-area monitoring system operation. Armed with such a vision, this article presents and discusses the results of an experimental analysis aimed at characterizing the vulnerability of global positioning system based wide-area monitoring systems to external interferences. The article outlines the potential strategies that could be adopted to protect global positioning system receivers from external cyber-attacks and proposes decentralized defense strategies based on self-organizing sensor networks aimed at assuring correct time synchronization in the presence of external attacks

Sensitivity analysis methods for uncertainty budgeting in system design

Quantification and management of uncertainty are critical in the design of engineering systems, especially in the early stages of conceptual design. This paper presents an approach to defining budgets on the acceptable levels of uncertainty in design quantities of interest, such as the allowable risk in not meeting a critical design constraint and the allowable deviation in a system performance metric. A sensitivity-based method analyzes the effects of design decisions on satisfying those budgets, and a multi-objective optimization formulation permits the designer to explore the tradespace of uncertainty reduction activities while also accounting for a cost budget. For models that are computationally costly to evaluate, a surrogate modeling approach based on high dimensional model representation (HDMR) achieves efficient computation of the sensitivities. An example problem in aircraft conceptual design illustrates the approach.United States. National Aeronautics and Space Administration. Leading Edge Aeronautics Research Program (Grant NNX14AC73A)United States. Department of Energy. Applied Mathematics Program (Award DE-FG02-08ER2585)United States. Department of Energy. Applied Mathematics Program (Award DE-SC0009297