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

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Suprasellar epidermoid cyst: a rare cause of painless progressive bilateral vision loss-case report with clinico-radiological correlation

Intracranial epidermoid cysts are relatively rare lesions. They result from inclusion of ectodermal elements during time of neural tube closure. This lesion could rarely be acquired due to post-surgical or post traumatic implantation of the ectodermal components. They typically present in middle age group patients with evidence of loco-regional mass effect on adjacent structures. We present a clinico-radiological case report of the 27-year-old female patient who presented with painless progressive bilateral vision loss for last 4 months

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

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

Curious case of corpus callosal hematoma in a normotensive post-partum female patient: a case report of reversible post-partum angiopathy with clinico-radiological correlation

Postpartum cerebral angiopathy (PCA) is a rare cause of stroke in the puerperium. It usually presents with episodes of headache, seizures and neurological deficits in early post-partum period in normotensive females. CT, MRI and catheter angiography may demonstrate segmental vasoconstriction that often resolves spontaneously. PPA is generally regarded as a benign, non-relapsing and reversible disease process. We present a clinico-radiological correlative case of isolated corpus callosal hematoma in a post-partum normotensive female with evidence of intracranial vascular spasm and luminal irregularity on CT and catheter angiography. Follow up MR angiography showed resolution of the vasospasm and luminal irregularity. Patient was managed conservatively and showed resolution of the symptoms in follow up visit on 8th week.

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

Percutaneous tricuspid valvotomy for pacemaker lead-induced tricuspid stenosis

AbstractPermanent pacemaker lead-induced tricuspid regurgitation is extremely uncommon. We report a patient with severe tricuspid stenosis detected 10 years after permanent single chamber pacemaker implantation in surgically corrected congenital heart disease. The loop at the level of the tricuspid valve may have caused endothelial injury and eventually led to stenosis. Percutaneous balloon valvotomy for such stenosis has not been reported from India

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

RBCK1‐related disease: A rare multisystem disorder with polyglucosan storage, auto‐inflammation, recurrent infections, skeletal, and cardiac myopathy—Four additional patients and a review of the current literature

In this article, we report four new patients, from three kindreds, with pathogenic variants in RBCK1 and a multisystem disorder characterised by widespread polyglucosan storage. We describe the clinical presentation of progressive skeletal and cardiac myopathy, combined immunodeficiencies and auto‐inflammation, illustrate in detail the histopathological findings in multiple tissue types, and report muscle MRI findings

A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms

Hypokalaemic periodic paralysis is a rare genetic neuromuscular disease characterized by episodes of skeletal muscle paralysis associated with low serum potassium. Muscle fibre inexcitability during attacks of paralysis is due to an aberrant depolarizing leak current through mutant voltage sensing domains of either the sarcolemmal voltage-gated calcium or sodium channel. We report a child with hypokalaemic periodic paralysis and CNS involvement, including seizures, but without mutations in the known periodic paralysis genes. We identified a novel heterozygous de novo missense mutation in the ATP1A2 gene encoding the α2 subunit of the Na+/K+-ATPase that is abundantly expressed in skeletal muscle and in brain astrocytes. Pump activity is crucial for Na+ and K+ homeostasis following sustained muscle or neuronal activity and its dysfunction is linked to the CNS disorders hemiplegic migraine and alternating hemiplegia of childhood, but muscle dysfunction has not been reported. Electrophysiological measurements of mutant pump activity in Xenopus oocytes revealed lower turnover rates in physiological extracellular K+ and an anomalous inward leak current in hypokalaemic conditions, predicted to lead to muscle depolarization. Our data provide important evidence supporting a leak current as the major pathomechanism underlying hypokalaemic periodic paralysis and indicate ATP1A2 as a new hypokalaemic periodic paralysis gene