Importance of etiologic diagnosis of hydrocephalus as illustrated by a case of Walker Warburg syndrome

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Jarcho-Levin syndrome

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Simplified Burn-Rate Model for CMDB Propellants

A single model has been proposed to predict the burning rates of bimodal AP,RDX and aluminum containing CMDB propellants. This is done in terms of the respective physical constants on the basis of a recently developed model of combustion of CMDB propellants. The study has been carried out to examine the effects of changes in propellants composition, AP particle size and pressures on burning rate. Computer programs were developed for this purpose and the results obtained for typical sets of input data have been presented and compared with the actual results

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

Studies on Physico-Mechanical and Explosive Characteristics of RDX/HMX-Based Castable Plastic-Bonded Explosives

Conventional cast explosives (RDX/TNT) have major drawbacks of poor mechanical properties,shrinkages and higher sensitivity .These properties can be improved by applying plastic bindersystems. The plastic-bonded explosive (PBX) is a composite material in which solid explosive particles are dispersed in a polymer matrix. The present paper describes the development of anitramine/hydroxy-terminated polybutadiene (HTPB)-based castable PBX. The PBXs were processed as per standard procedures. Bimodal/trimodal particle size system was selected to reach asolid loading of 88 wt per cent. High solid loading was made possible through proper combination ofcoarse/fine ratio of solid ingredients, which was based on a number of tap density experiments.Processability of the binder system was studied by using various wetting agents as well as by selectingbinder/plasticizer ratios. Mechanical properties of the PBXs were enhanced by different crosslinkingagents. The explosive properties ofPBXs including detonation velocity , processability and sensitivityto different types of stimuli, were studied. The results show that PBXs can be manufactured withdetonation properties better than those of composition B/octol with the added advantages of superiorthermal and sensitivity characteristics

Sociocultural problems in genetic counselling

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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

Study of survival of motor neuron (SMN) and neuronal apoptosis inhibitory protein (NAIP) gene deletions in SMA patients

In view of the paucity of deletion studies of survival of motor neuron (SMN) and neuronal apoptosis inhibitor protein (NAIP) genes in Indian SMA patients, this study has been undertaken to determine the status of SMN1, SMN2 and NAIP gene deletions in Indian SMA patients. Clinically and neurophysiologically diagnosed SMA patients were included in the study. A gene deletion study was carried out in 45 proximal SMA patients and 50 controls of the same ethnic group. Both SMN1 and NAIP genes showed homozygous absence in 76 % and 31 % respectively in proximal SMA patients. It is proposed that the lower deletion frequency of SMN1 gene in Indian patients may be due to mutations present in other genes or population variation, which need further study

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

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