ILAE genetics commission conference report: molecular analysis of complex genetic epilepsies.
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Epilepsy↗
Biomedical subjects
S Jain
Publications and source records attributed to S Jain.
Toxicity of brake oil.
Brake oil is an automobile transmission fluid composed of a mixture of toxic glycols and glycol ethers. Three cases of poisoning with toxic glycol based brake fluid are reported who presented with mild metabolic acidosis and acute renal failure. As all the cases had presented late, treatment with ethanol was not started. All of them were treated successfully with haemodialysis.
Acidosis↗
Improving the utility of prostate specific antigen (PSA) in the diagnosis of prostate cancer: the use of PSA derivatives and novel markers.
Prostate specific antigen (PSA) testing is now a routine part of the investigation of men with suspected prostate cancer. While a very useful test it still has its problems, in particular its lack of specificity means abnormal results are often caused by benign disease. This review describes the current problems with PSA testing in prostate cancer diagnosis and highlights potential ways in which these may be reduced.
Adult↗
Common psychiatric diseases and human genetic variation.
OBJECTIVE: A better understanding of human genetic variation is important in assessing disease epidemiology and phenotypic variation, and may be critical in evaluating genetic aspects of common genetic diseases, such as schizophrenia, bipolar disease and Parkinson's. These diseases are particularly difficult to investigate as there are few peripheral markers, and although a genetic aetiology has long been suspected, robust findings have been hard to establish. METHODS: Variations in alleles at 13 tri-nucleotide gene loci expressed in the brain and implicated in several neurodegenerative diseases, as well as certain other loci, were examined in the Indian population for comparison with other major ethnic groups. RESULTS AND CONCLUSION: In the Indian population, the distribution of alleles at the Machado-Joseph disease locus was similar to the Western European pattern of distribution. Analysis of haplotypes at the locus for Huntington's disease suggested multiple origins, and possible effects of population admixture because of the recent history of the country. At other alleles of neuropsychiatric interest (dopamine receptor, serotonin receptor, serotonin transporter, alcohol dehydrogenase), allele frequencies in the Indian population differed from other populations. Interspecies comparison suggests a gradual expansion in repeat size, with the exception of the CLOCK gene, which displays a contraction of CAG repeat numbers. World-wide differences in disease phenotypes need to be explored, and an appreciation of their genetic basis may provide a window of opportunity for improving our knowledge of the underlying genetic mechanisms.
Journal Article↗
Thoracic outlet syndrome caused by chronic retrosternal dislocation of the clavicle. Successful treatment by transaxillary resection of the first rib.
Traumatic posterior dislocation of the sternoclavicular joint is an unusual injury. We report a rare, late complication in the form of a thoracic outlet syndrome. Resection of the first rib resulted in prompt and complete resolution of the symptoms and would appear to be the appropriate treatment, avoiding the complications associated with resection of the clavicle.
Adolescent↗
Effect of melatonin and phenytoin on an intracortical ferric chloride model of posttraumatic seizures in rats.
The present study was carried out to investigate the effect of melatonin, a potent antioxidant, and phenytoin, a conventional antiepileptic, against FeCl3-induced posttraumatic seizures. Male Wistar rats weighing 200-250 g were implanted with epidural electrodes and allowed to recover. After the recording of baseline EEG, FeCl3 (5 ul, 100 mM) was administered intracortically over a period of 5 min and EEG was monitored for 2 h. Subsequently, rats were sacrificed to estimate oxidative stress, i.e., the amount of malondialdehyde (MDA) in whole brain tissue. A sham group was run parallel with saline (pH adjusted), and a similar protocol for EEG recording and estimation of oxidative stress was followed. FeCl3-treated animals exhibited epileptiform EEG changes (high amplitude sharp waves of increased frequency and polyspikes) within 15 min, which continued throughout the period of observation. MDA levels were found to be significantly elevated as compared to the sham group. Melatonin (50 mg/kg i.p.) administered 30 min before FeCl3 injection delayed the onset of appearance of epileptiform EEG changes, while at a 100 mg/kg dose of there was complete protection, as none of the animal exhibited epileptiform EEG discharge. Brain MDA levels were also significantly reduced in melatonin (50 and 100 mg/kg dose)-treated animals as compared to the vehicle-treated FeCl3-injected rats. In the phenytoin group, all animals showed epileptiform EEG discharge. However, phenytoin at both 50 and 100 mg/kg dose delayed the onset of epileptiform EEG discharge. There were no significant changes in brain MDA levels in the phenytoin-treated group as compared to controls. Melatonin and phenytoin at doses of 100 mg/kg did not show any sign of motor impairment as observed during the rota-rod test. These findings showed a superior protective effect of melatonin over phenytoin in an intracortical FeCl3 model of posttraumatic epilepsy.
Animals↗
Ciprofloxacin-induced QTc prolongation.
Ciprofloxacin has been widely used for treating infections and has been found to have very low cardiovascular side effects. QTc prolongation with the use of ciprofloxacin is yet to be reported in literature. A case report highlighting QTc prolongation by use of ciprofloxacin is being presented.
Adult↗
The lateralizing significance of version of head and dystonic limb posturing in epileptic seizures.
Several clinical signs have been described for lateralization and localization of seizure focus in complex partial seizures; however, the specificity of each of these has been widely debated upon. The present study was done to evaluate 'dystonic unilateral limb posturing' and 'versive head movements' for lateralization and localization of epileptic foci in patients with intractable partial complex seizures, being investigated with long term Video-EEG monitoring. Fifteen patients with 46 seizures, studied with long term Video EEG, had either one or both of these signs. The video recordings of the clinical behaviour were noted and later compared with the corresponding EEG. Unilateral dystonic limb posturing and versive head movements had good lateralising value in complex partial seizures, suggestive of temporal lobe origin, contralateral to the seizure focus, with a specificity of 87.5% and 86% respectively. In addition, turning of the whole body to one side was associated with a contralateral seizure focus in 100% cases. Appendicular automatisms were found to be of no lateralising significance, as they occurred on either side with equal frequency. These motor phenomena should, therefore, be enquired about in detail, during history taking for lateralization or localization of seizure focus.
Adolescent↗
Primary intraspinal primitive neuroectodermal tumor (PNET): a rare occurrence.
The concept of primitive neuroectodermal tumors (PNETs) has been evolving for many years, as has been its nomenclature. A 5 year old boy presented with pain in lower cervicodorsal region and left leg. Preoperative MRI of the spine and paravertebral region revealed a hyperintense lobulated lesion extending from D1-D4 with a large intraspinal and thoracic component. A total removal of tumor was achieved via a dorsal laminectomy and right posterolateral thoracotomy. The pathological findings were consistent with PNET. Post operative neurological examination had been unremarkable. Six months follow up scan showed no recurrence. A review of the literature shows that only 18 cases of primary intraspinal PNETs have been reported to date and the present case is exclusive, in which the tumor was thoracic, extradural in location and the child is alive at 8 months of follow up, with no evidence of tumor recurrence/metastasis. Primary intraspinal PNETs are rare tumors and carry a poor prognosis. Newer modalities of treatment should be tried to improve survival.
Child, Preschool↗
Dendrimer grafts for delivery of 5-fluorouracil.
Polyamidoamine (PAMAM) dendrimers were prepared by linking methyl methacrylate and ethylenediamine successively on an amine core. Surface modification of PAMAM dendrimer was done by fatty acid grafting converting them to a unimolecular micellar system (Dendrimer grafts). IR, 1H NMR, 13C NMR studies confirmed the structure. The drug 5-fluorouracil (5-FU) was entrapped in dendrimer grafts. The effects of various solvents (ethanol, dichloromethane, tetrahydrofuran), pH and ionic strength on solubilization of 5-FU were determined. Phospholipid was further coated on the dendrimer grafts. The product was lyophilized and obtained as yellowish-white powder. Average particle size was ca. 375 nm as determined by Malvern's Mastersizer 4. Drug loading was ca. 53% by weight. Stability studies were conducted for 1 month at room temperature and 40 degrees C, where the systems were relatively stable. Release rate was sustained across cellulose tubing in PBS. In vivo studies were performed in albino rats and pharmacokinetic parameters and bioavailability were determined from the plasma profile of 5-FU. The phospholipid coated dendrimer graft formulation was found to be more effective orally than free drug. The lymphatic uptake was also increased indicating absorption of the developed formulation through the lymphatic route.
Administration, Oral↗
Botulinum toxin as therapeutic agent in local hyperhydrosis.
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Adult↗
Granulomatous angiitis of the central nervous system associated with herpes zoster.
Granulomatous angiitis of central nervous system (CNS) is a rare inflammatory disease of blood vessels mostly confined to CNS. We describe a case which presented with right sided hemiplegia with aphasia, after herpes zoster ophthalmicus. CT scan and MRI brain showed a large left sided infarct in the left middle cerebral artery (MCA) territory. MRI angiography revealed narrowing and thinning of left internal carotid artery (ICA) and to a lesser extent, left MCA suggestive of granulomatous vasculitis. Herpes zoster is often associated with major CNS involvement and a vascular etiology was previously postulated. Recent pathological reports suggest that cerebral angiitis secondary to herpes virus infection may be more common than realised.
Adolescent↗
Epidural abscess and Staphylococcus aureus endocarditis - a rare association.
Epidural abscess is a relatively uncommon disorder. Although the surgical management is the mainstay of treatment, there are case reports of it being managed conservatively in selected patients. We report a patient who presented with quadreparesis due to epidural abscess and had infective endocarditis due to Staphylococcus aureus septicemia. Both epidural abscess and infective endocarditis were managed conservatively with intravenous antibiotics given for four weeks, with complete recovery of patient.
Adult↗
Effects of low-dose omega-3 fatty acid substitution in type-2 diabetes mellitus with special reference to oxidative stress--a prospective preliminary study.
BACKGROUND: A state of increased oxidative stress has been recognised in type 2 diabetes mellitus (DM). The present study was done to assess the effects of low dose omega-3 fatty acids substitution in patients with type 2 DM with special reference to oxidative stress. METHOD: Sixty-five patients with type 2 DM of body mass index (BMI) < 27 kg/m2 and thirty age and sex matched healthy controls were evaluated for blood glucose, blood pressure and lipid profile and oxidative stress was assessed in them by measuring lipid peroxides (LP), diene conjugates (DC) and reduced glutathione (RG) in the serum. Of the 65, 40 motivated patients were randomly divided into two groups--group 1 comprising of fifteen patients prescribed a diabetic diet along with a placebo and group 2 consisting of twenty-five patients on the same diet with the addition of 0.6 g omega-3 fatty acids as one capsule Maxigard (containing 180 mg eicosapentaenoic acid and 120 mg docosahexaenoic acid) twice daily. All parameters were reassessed after six weeks. RESULTS: The levels of lipid peroxides (micromol/L), diene conjugates (OD units) and reduced glutathione (mmol GSH/L) were significantly altered indicating increased oxidative stress in the diabetics compared to the healthy controls: 4.106 +/- 0.889, 2.751 +/- 0.424, 1.344 +/- 0.316 and 1.91 +/- 0.541, 1.735 +/- 0.315, 1.919 +/- 0.310, respectively (p < 0.001 for all the three). Patients in group 1 and 2 were comparable in all respects including oxidative stress at the start of therapy. After six weeks, on comparing the mean % changes in the three parameters of oxidative stress between the two groups, it was seen that the % change was significantly higher in group 2 (Maxigard group) compared to group 1 (Placebo; 5.22 +/- 1.056 (p = 0.05), 3.28 +/- 0.608 (p = 0.01), 5.27 +/- 0.585 (p < 0.001) and 0.82 +/- 0.123, 0.18 +/- 0.017, 0.56 +/- 0.035 (p < 0.001), respectively. The patients in group 2 also exhibited significantly greater improvement in glycemic status, blood pressure and lipid profiles. CONCLUSIONS: The present study documented the existence of a state of increased oxidative stress in type 2 diabetics. Significant beneficial effects of low dose omega-3 fatty acids substitution for PUFA-6 were observed not only on oxidative stress parameters but also on blood pressure and metabolic profile.
Blood Pressure↗
pH-sensitive liposomes: mechanism of triggered release to drug and gene delivery prospects.
A growing amount of literature describes the development and applications of novel targeting and/or release triggering schemes to improve the therapeutic index of drugs encapsulated within liposomes. The composition of liposomal systems can be modified to facilitate site specific release in response to environmental conditions, namely at the gross anatomical level, at the cellular or sub-cellular level. They are designed in order to release their contents in response to acidic pH within the endosomal system while remaining stable in plasma thus improving the cytoplasmic delivery of various polar materials and macromolecules such as anti-tumor drugs, toxins, proteins and DNA. This review covers various aspect of research on pH-sensitive liposomes.
Animals↗
Childhood leprosy in an urban clinic, Hyderabad, India: clinical presentation and the role of household contacts.
A retrospective case note study was done of children below the age of 14 years who attended Dhoolpet Leprosy Research Centre (DLRC) over the decade 1990-1999. The aim of the study was to describe the pattern of clinical presentation, the role of household or near neighbour contacts and the incidence of neuritis and reactions. In all, 3118 leprosy patients were registered during this period, of whom 306 were children [182 (60%) male]; 95 children had a single patch, 159 had five or fewer than five patches and 37 had multiple patches. The youngest case detected was 9 months old. The spectrum of leprosy in these children was: TT 62 (20.3%); BT 203 (66.3%); BB 3 (1%); BL 23 (7.5%); LL 5 (1.6%) and PNL 10 (3.3%). Twenty-nine cases (9.4%) were smear positive. Ninety-one children (29.7%) developed a reaction, 86 type I and five type II. A history of contact was present in 119 (38.8%) cases, family contact in 113 (95%) and other than family in six (5%). Classification of the contact was available in only 60 patients. Among the contacts of the index case, 21 (35%) suffered from PB leprosy and 39 (65%) from MB leprosy. All contacts were from the immediate family. This study shows that childhood leprosy cases continue to present in significant numbers to this outpatient clinic. There is a high level of family contact with leprosy in these cases, strengthening the strategy of screening children in leprosy-affected households. The high incidence of reactions and nerve damage in children emphasizes the importance of early detection and treatment.
Adolescent↗
Correlation of ictal EEG and SPECT studies in patients of intractable epilepsy with normal MRI.
Identification of the epileptic focus is the most important requirement for a successful surgical outcome in intractable epilepsy. Patients with normal MRI on high-resolution imaging pose a significant challenge in this regard. We tried to identify the epileptic focus using interictal / ictal SPECT and ictal EEG patterns in 14 patients with normal MRI. Rhythmic ictal onset activity helped to identify a single focus in 10 patients (71.43%). Inter ictal SPECT detected a focus corresponding to ictal EEG in 6 out of 10 patients (60%) in whom the test was performed. Ictal SPECT done in 5 patients correctly identified the focus in all patients (100%). Our data indicate that it is possible to obtain localization in patients with normal MRI using a combination of ictal EEG patterns and an ictal SPECT study.
Adolescent↗
Life and past one year stressful events in coronary artery disease.
UNLABELLED: Personality type and role of stressful life events in the etiology of various disease has been a fertile field for research for past few decades. OBJECT STUDY: Very limited studies have been conducted especially for the estimation of stressful life events in Indian population with coronary artery disease (CAD), so a study was conducted to evaluate the same. METHODOLOGY: Ninety patients of CAD (positive for TMT or angiographic proved coronary obstruction) formed the study material. These were evaluated by Jenkin's activity survey (JAS) for personality type and on Presumptive Stressful Life Events (PSLE) scale for life events. SUMMARY OF RESULTS: The mean age of subjects was 57 +/- 8.03 years and male: female ratio was 14:1 Fifty one subjects (57%) had Type A personality while thirty nine subjects (43%) had Type B personality. Mean life time stressful life events were 3.4 +/- 1.92 which were higher (p < 0.001) when compared to respective average score of normal Indian population i.e. 10.34 +/- 5.4 and 1.90 +/- 2.62 respectively. CONCLUSION: Based on the present study it may be concluded that Type A personality is more frequently seen in CAD and also that these subjects had a statistically higher incidence of lifetime and past one year stressful events which could have made these subjects more vulnerable to CAD.
Adult↗