Background: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder with no effective treatment. Stem cell therapy may be one of the promising treatment options for such patients. Aim: To assess the feasibility, efficacy and safety of autologous bone marrow-derived stem cells in patients of ALS. Settings and Design: We conducted an open-label pilot study of autologous bone marrow-derived stem cells in patients with ALS attending the Neurology Clinic of a tertiary care referral centre. Materials and Methods: Ten patients with ALS with mean revised ALS Functional Rating Scale (ALSFRS-R) score of 30.2 (± 10.58) at baseline received intrathecal autologous bone marrow-derived stem cells. Primary end point was improvement in the ALSFRS-R score at 90, 180, 270 and 365 days post therapy. Secondary endpoints included ALSFRS-R subscores, time to 4-point deterioration, median survival and reported adverse events. Paired t-test was used to compare changes in ALSFRS-R from baseline and Kaplan-Meier analysis was used for survival calculations. Results: There was no significant deterioration in ALSFRS-R composite score from baseline at one-year follow-up (P=0.090). The median survival post procedure was 18.0 months and median time to 4-point deterioration was 16.7 months. No significant adverse events were reported. Conclusion: Autologous bone marrow-derived stem cell therapy is safe and feasible in patients of ALS. Short-term follow-up of ALSFRS-R scores suggests a trend towards stabilization of disease. However, the benefit needs to be confirmed in the long-term follow-up period.

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Background: Natural history of optic neuritis (OPN) has not been studied in India. Aim: To study consecutive patients with optic neuritis as the initial manifestation of the neurologic disease and with disease duration of 3 or more years registered in the Mangalore Demyelinating Disease Registry. Materials and Methods: The study included 59 patients with a primary diagnosis of optic neuritis (confirmed by either an ophthalmologist or a neurologist or both). All the patients were investigated and followed-up in the clinic. Results: During the follow-up of the 59 patients, 29 (49%) patients developed multiple sclerosis (MS); 3 (5%) patients neuromyelitis optica (NMO); and 13 (22%) patients chronic relapsing inflammatory optic neuritis (CRION), while the remaining 14 (24%) did not either progress or relapse, monophasic OPN. An initial abnormal magnetic resonance imaging predicted conversion to MS in all 7 patients who had imaging at onset. Patients with NMO were left with significant residual visual loss distinguishing NMO from MS. In this large series of patients with CRION, nearly 50% of patients had deterioration in vision while steroids were being tapered. Long-term immunosuppression was essential for maintaining good visual outcome in both NMO and CRION. Conclusions: Optic neuritis in India appears similar to that in the West with nearly 50% developing MS in the long term.

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Aim: The aim of this study was to investigate the patient selection, indications for operation, surgical methods and effects of microvascular decompression (MVD) for treatment of intractable and incapacitating tinnitus and vertigo. Materials and Methods: A total of 35 patients were recruited from January 2009 to June 2010 for the MVD surgery. Results: Arterial compression of cochleovestibular nerve was found in all the 35 patients. The immediate effect of MVD was observed in 22 patients with tinnitus and 10 patients with vertigo. The follow-up data for the effect of MVD showed complete resolution of tinnitus in 14 patients and vertigo in 6 patients. Conclusions: Vascular compression of cochleovestibular nerve in cerebellopontine angle may be one of the causes of intractable and incapacitating tinnitus and/or vertigo. MVD may be a safe and effective surgical procedure for treatment of severe tinnitus and/or vertigo in patients.

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A stroke is still a major cause of long-term disability and the third largest killer in the world after heart attack and cancer. Inherited genetic variation has been shown to play a role in its pathogenesis and therefore, there is a need to identify the culprit genetic variants. They may provide novel targets for preventive therapeutics. The most intensively investigated candidate gene is PDE4D. There are several positive replication studies of PDE4D gene with stroke. The genetic contribution to ischemic stroke risk in India has not been explored adequately. Reports on few candidate genes are available but we are still lagging behind in this aspect. Most of the reports are from Andhra Pradesh, a province in south India and a few parts of north India. PDE4D has been identified as a predisposition gene for ischemic stroke in Southern as well as the Northern population of India.

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In this detailed muscle biopsy study of a patient with molecularly confirmed diagnosis of limb-girdle muscular dystrophy 2I (LGMD2I) we show some new data, that is the presence of altered expression pattern of costamere components as integrin α7B and integrin β1D associated with vinculin costameric derangement and basal lamina ultrastructural abnormalities as detachments and discontinuities suggesting that different cellular compartments are involved in LGMD2I and the altered basement membrane-plasmalemma-cytoskeleton binding can underlie muscle degeneration.

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Leptospirosis is a zoonosis prevalent worldwide and is endemic in many parts of India. In early leptospiremic as well as late immune phase of the disease kidney, liver, heart, and lungs are commonly involved. Neurological manifestations are rare but may occur during immune phase in the form of aseptic meningitis, meningoencephalitis, seizures, myelitis, polyradiculoneuritis, and myalgia. In this report, we describe a rare case of leptospirosis with combined involvement of nerve, muscle, and myoneural junction in generalized fashion along with pulmonary, renal, and hepatic dysfunction.

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Background: Paroxysmal occipital discharges (PODs) demonstrating the phenomena of fixation-off sensitivity have classically been described in childhood epilepsies with occipital paroxysms. Aim: We attempted to delineate the demographic, clinical and imaging characteristics of patients whose interictal electroencephalograms (EEGs) showed occipital discharges with fixation-off sensitivity at our center. Materials and Methods: During the period between 2003 and 2005, patients whose interictal EEGs showed PODs were included in the study. A detailed history, clinical examination and EEG findings along with imaging characteristics were analyzed. Results: Of the 9,104 interictal EEGs screened during the study period, 11 patients (6 females and 5 males) aged between 5 and 17 years were identified to have PODs with fixation-off sensitivity. Five had history of generalized tonic-clonic seizures. Three patients could be classified under Panayiotopoulos syndrome; the remaining 8 (72.2%) patients had symptomatic epilepsy. Conclusion: This study suggests that the phenomenon of fixation-off sensitivity is found not only in patients of idiopathic focal epilepsies, but also in a substantial number of patients of symptomatic epilepsy. The high proportion of symptomatic epilepsy with phenomenon of fixation-off sensitivity may be related to the referral pattern.

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Background: Restless legs syndrome (RLS) itself as well as the problems that are secondary to RLS may worsen the quality of life. Aim: The aim of this study is to translate and validate the Restless Legs Syndrome Quality of Life (RLS-QOL) questionnaire in Hindi language. Settings and Designs: Patients attending psychiatry OPD and sleep clinic in a tertiary care teaching hospital. Materials and Methods: Thirty four consecutive patients of RLS and twenty nine control subjects were included in the study. Permission for translation and validation of RLS-QOL questionnaire scale was obtained. Translation was done according to the guidelines provided by the publisher. After translation, the final version of the scale was applied in both the groups to find the reliability and validity. Statistical Analysis: SPSS, version 17.0 was used for the analysis. Independent sample t test was used to compare age. Chi-square test was applied to compare non-parametric variables. Pearson's and Spearman's correlations were used to find out the correlation between parametric and non-parametric items, respectively. Reliability analysis was done by using Cronbach's alpha. Results: Among the RLS subjects, mean Insomnia Severity Index (ISI) score, International Restless Legs Syndrome Severity Rating Scale (IRLS) score and Computed Score of RLS-QOL questionnaire were 25.43 (7.39), 12.7 (8.34) and 29.8 (8.39), respectively. A statistically significant difference was observed between both the groups on all these scores (ISI: t= −11.2, P<0.001, 95% CI= −22.62 to −15.76; IRLS: t = −8.1, P< 0.001, 95% CI =−15.81 to −9.58; RLS-QOL: t =−19.07, P<0.001 with 95% CI = −32.69,- 28.83). A significant correlation between ISI and RLS-QOL (r ² = 0.59; P< 0.001) was seen. Most of the items also showed good correlation with each other. Internal consistency done by Cronbach's alpha showed good correlation (0.85). Conclusion: Hindi version of the Restless Legs Syndrome Quality of Life (RLS-QOL) questionnaire is a valid and reliable tool for the assessment of the quality of life in patients with RLS.

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This report presents a 60-year-old with a large paraclinoid carotid aneurysm associated with cervical interal carotid artery (ICA) dissection (CICAD). She had a fall while riding a bicycle and hit her head on the ground. Computed tomography scan done at another facility showed a round mass lesion near the sella. Her medical history revealed gradual decrease in left eye vision since two years. Left carotid artery digital subtraction angiography demonstrated a CICAD with an intimal flap and a large paraclinoid aneurysm (15.5 mm in size). She underwent a high-flow bypass with a so-called double-insurance bypass and proximal ligation of the cervical ICA and the postoperative course was uneventful. She was discharged without any new neurological deficits. We suggest that the possible nature of carotid artery dissection (CAD)-related hemodynamic changes should be taken into consideration in cases of intracranial aneurysm associated with CAD.

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Aims: To study the prognostic role of β-catenin and stem cell markers in medulloblastoma (MB). Materials and Methods: Sixty cases of MB were retrospectively analyzed to study the expression of β-catenin, CD15, and CD133 by immunohistochemistry. Their expression was correlated with histological subtypes and event-free survival (EFS). Patients were divided into Group 1 and 2 based on non-occurrence and occurrence of events during the follow-up period. Results: Fifty of the 60 cases were of classic type of MB while nine were of desmoplastic subtype and one case showed chondroid and rhabdomyoblastic differentiation. Immunoreactivity for β-catenin was observed as nuclear and/or cytoplasmic positivity within the tumor cells. Forty-one (68.3%) cases showed cytoplasmic positivity, while nuclear positivity was seen in 21 (35%) cases. There was a significant correlation between nuclear expression of β-catenin and different histological subtypes by Chi-square test (P value<0.05). A statistically significant positive correlation of β-catenin nuclear positivity with EFS was observed. Among 60 cases, 37 cases (67.3%) showed presence of CD15+ tumor cells with percentage of positivity varying between 0.1 to 17.1%. Overall, 42 of 60 (70%) cases showed presence of CD133+ cells. The percentage of positivity varied between 0.1 to 16.5%. A statistically significant negative correlation of CD15 and CD133 positivity with EFS was observed. Conclusions: Nucleopositive β-catenin cases were associated with a favorable outcome on univariate analysis. Both CD15 and CD133 positivity were associated with a worse outcome on univariate analysis.

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Background: O ⁶ -methylguanine DNA methyltransferase [MGMT] gene promoter methylation has emerged as a promising marker in determining resistance to temozolomide, used in the treatment of patients with glioblastomas. Aim: To determine the frequency of MGMT promoter methylation among patients with glioblastomas using methylation-specific polymerase chain reaction (MSP) and compare it to the results obtained by bisulfite sequencing of a subset of samples. Materials and Methods: DNA obtained from the frozen tissue of 27 samples of glioblastomas and three other gliomas, were analyzed for MGMT promoter methylation using a nested MSP assay. Sixteen samples were also subjected to bisulfite sequencing to determine the methylation status of 27 CpG sites within the sequenced region of the MGMT promoter. Data with respect to radiation, chemotherapy and survival outcome was also collected. Results: MGMT promoter methylation was seen in 67% of the cases included in the study using frozen tissues by MSP analysis, while 62% were methylated among glioblastomas alone. There was a 100% concordance between the results obtained by MSP analysis and bisulfite sequencing. Clinical outcome was known among 67% of cases and methylation was higher among those patients who had no recurrence, though it was not statistically significant [P=0.44]. Conclusion: The frequency of methylation seen in this study concurs with that reported earlier from the country. MSP was easy to perform and interpret. However, the utility of this testing system in a routine diagnostic setting is still being debated.

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Background: Genetic variations of renin-angiotensin-aldosterone system play an important role in the pathogenesis of hypertension and stroke. Aim: To investigate the -344C/T and intron 2 conversion polymorphisms of aldosterone synthase gene (CYP11B2) for an association with stroke and hypertension in the North Chinese Han population. Materials and Methods: This case-control study included 332 patients and 250 controls. Genotypes of -344C/T polymorphism was determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and the intron 2 conversion polymorphism was genotyped using two separated PCRs. Results: There were significant differences in genotype frequencies of -344C/T polymorphism between stroke patients and controls (P = 0.002). An association was found between TT genotype and ischemic stroke [odds ratio = 1.572, 95%CI (1.095-2.258), P = 0.014]. However, there was no significant association of intron 2 polymorphism with stroke. Furthermore, when the ischemic stroke patients were classified according to Trial of Org 10172 in Acute Stroke Treatment classification, TT genotype was found to be associated with large artery atherosclerosis [odds ratio = 1.747, 95%CI (1.182-2.584), P = 0.005] and small vessel disease [odds ratio = 1.781, 95%CI (1.134-2.796), P = 0.012]. The intron 2 polymorphism failed to show relationship with any specific stroke subtype. Conclusions: Our findings suggest a significant association of CYP11B2 (-344C/T) polymorphism with stroke but intron 2 polymorphism is not associated with increased stroke susceptibility.

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