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REVIEW ARTICLES |
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Fifty years of stroke researches in India |
p. 1 |
Tapas Kumar Banerjee, Shyamal Kumar Das DOI:10.4103/0972-2327.168631 PMID:27011621Currently, the stroke incidence in India is much higher than Western industrialized countries. Large vessel intracranial atherosclerosis is the commonest cause of ischemic stroke in India. The common risk factors, that is, hypertension, diabetes, smoking, and dyslipidemia are quite prevalent and inadequately controlled; mainly because of poor public awareness and inadequate infrastructure. Only a small number of ischemic stroke cases are able to have the benefit of thrombolytic therapy. Benefits from stem cell therapy in established stroke cases are under evaluation. Presently, prevention of stroke is the best option considering the Indian scenario through control and/or avoiding risk factors of stroke. Interventional studies are an important need for this scenario. |
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Research in Parkinson's disease in India: A review |
p. 9 |
Pratibha Surathi, Ketan Jhunjhunwala, Ravi Yadav, Pramod Kumar Pal DOI:10.4103/0972-2327.167713 PMID:27011622Parkinson's disease (PD) is a common neurodegenerative disorder affecting patients in large numbers throughout the world. In this article, we review all the published data on PD based on studies in Indian population. We have tried to consolidate the contribution of Indian studies in PD research. We found 95 articles, of which 92 were original research papers. This is a relatively less number, but in the last decade, there has been an increase in research on PD from this country. But most of them seem to be restricted to only a few research institutes. The nonmotor symptoms and genetics are the most commonly studied aspects. The systematic review of the articles reveals that the epidemiology in India may be different with relatively lesser incidence here. Most of the genetic mutations found to cause PD in other population are not found in India, revealing that other genetic factors may be involved. Further research needs to be encouraged to understand the disease in Indian patients better, as all the results cannot be extrapolated from the Western literature to this heterogeneous Indian population. There need to be more studies on therapeutic aspects of the disease. |
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VIEW POINT |
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Homogeneity and the outcome of clinical trials: An appraisal of the outcome of recent clinical trials on endovascular intervention in acute ischemic stroke |
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Shakir Husain, PR Srijithesh DOI:10.4103/0972-2327.173308 PMID:27011623Clinical trials that allow significant heterogeneity of population or interventions often result in uncertain outcomes. In this paper, we review the outcomes of five recent trials of endovascular interventions in acute ischemic stroke in the context of the neutral results of previous large clinical trials on the subject. |
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HISTORY OF MEDICINE |
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The story of George Huntington and his disease |
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Kalyan B Bhattacharyya DOI:10.4103/0972-2327.175425 PMID:27011624George Huntington described some families with choreiform movements in 1872 in the United States of America and since then many such families have been described in other parts of the world and works on the genetics of the disease have brought new vistas in the understanding of the disease. In 1958, Americo Negrette, a young Venezuelan physician observed similar subjects in the vicinity of Lake Maracaibo which was presented by his co-worker, Ramon Avilla Giron at New York in 1972 when United States of America had been commemorating the centenary year of Huntington's disease. Nancy Wexler, a psychoanalyst, whose mother had been suffering from the disease attended the meeting and organized a research team to Venezuela and they systematically studied more than 18,000 individuals in order to work out a common pedigree. They identified the genetic locus of the disease in the short arm of chromosome 4 and observed that it was a trinucleotide repeat disorder. |
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HOW I DO IT |
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How I treat a first single seizure in a child |
p. 29 |
Sheffali Gulati, Jaya Shankar Kaushik DOI:10.4103/0972-2327.173404 PMID:27011625An epileptic seizure is defined as transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in brain. There are diverse etiologies for acute seizure in infants and children. The present review provides a broad approach to diagnosis and treatment plan for acute seizure in children. The approach to a child with acute seizure is discussed with special emphasis on clinical approach based on history and focused examination with judicious choice of investigation and further management plan. The review also emphasizes on recognizing common nonepileptic events that masquerade as true seizure among infants and children. |
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ORIGINAL ARTICLES |
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Electrical source localization by LORETA in patients with epilepsy: Confirmation by postoperative MRI |
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Gülsüm Akdeniz DOI:10.4103/0972-2327.168632 PMID:27011626Background: Few studies have been conducted that have compared electrical source localization (ESL) results obtained by analyzing ictal patterns in scalp electroencephalogram (EEG) with the brain areas that are found to be responsible for seizures using other brain imaging techniques. Additionally, adequate studies have not been performed to confirm the accuracy of ESL methods. Materials and Methods: In this study, ESL was conducted using LORETA (Low Resolution Brain Electromagnetic Tomography) in 9 patients with lesions apparent on magnetic resonance imaging (MRI) and in 6 patients who did not exhibit lesions on their MRIs. EEGs of patients who underwent surgery for epilepsy and had follow-ups for at least 1 year after operations were analyzed for ictal spike, rhythmic, paroxysmal fast, and obscured EEG activities. Epileptogenic zones identified in postoperative MRIs were then compared with localizations obtained by LORETA model we employed. Results: We found that brain areas determined via ESL were in concordance with resected brain areas for 13 of the 15 patients evaluated, and those 13 patients were post-operatively determined as being seizure-free. Conclusion: ESL, which is a noninvasive technique, may contribute to the correct delineation of epileptogenic zones in patients who will eventually undergo surgery to treat epilepsy, (regardless of neuroimaging status). Moreover, ESL may aid in deciding on the number and localization of intracranial electrodes to be used in patients who are candidates for invasive recording. |
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Patients with post-polio syndrome are more likely to have subclinical involvement as compared to polio survivors without new symptoms |
p. 44 |
Arzu Yagiz On, Ulaş Sungur DOI:10.4103/0972-2327.167705 PMID:27011627Background: Post-polio syndrome (PPS) is a condition that affects polio survivors decades after recovery from an initial acute attack. It is a well-known entity that limbs thought to be nonaffected by polio survivors commonly demonstrate electromyography (EMG) evidence of prior polio. Although the diagnosis of PPS requires a remote history of acute paralytic polio, clinically unapparent damage caused by poliovirus can be associated with PPS later in life. Objective: To evaluate EMG abnormalities and late progressive symptoms in limbs thought to be nonaffected by polio survivors, in order to determine the prevalence of subclinical motor neuron involvement in those fulfilling criteria for PPS comparing to those without such symptoms. Materials and Methods: Clinical and EMG findings of 464 limbs in 116 polio survivors who had been admitted to our clinic were analyzed. Affection of the limbs by polio was classified based on the patient's self-report on remote weakness during the acute phase of poliomyelitis, muscle strength measured by manual muscle testing, and four-limb needle EMG. Results: Seventy-six of the patients (65.5%) met the criteria of PPS. Needle EMG studies revealed subclinical involvement in 122 out of 293 (42%) limbs with no history of remote weakness during the acute phase of poliomyelitis. Prevalence of subclinical involvement was found 47% in polio survivors who met the criteria of PPS compared to 33% in those without PPS (P = 0.013). Among the limbs that had developed new weakness in PPS patients, 33.5% had subclinical involvement. Discussion and Conclusion: Subclinical involvement is common in limbs thought to be nonaffected by polio survivors, and this is especially present in those fulfilling criteria for PPS. New muscle weakness may develop in apparently nonaffected, subclinically involved muscles. Thus we believe that four-limb EMG studies should be performed in all polio survivors, especially in those with the symptoms of PPS. |
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Serum homocysteine as a risk factor for carotid intimal thickening in acute stroke: A cross sectional observational study |
p. 48 |
Anup J Devasia, Binu Joy, Subhash D Tarey DOI:10.4103/0972-2327.168633 PMID:27011628Introduction: The present study aimed to analyse if there is a correlation between carotid intima medial thickening (CIMT) and Hcy in stroke patients. Methodology: We studied 100 consecutive cases of acute anterior circulation strokes at St. John's Medical College, Bangalore, India. Fasting serum samples for homocysteine were sent within 24 hours of admission and all patients underwent a carotid Doppler scan and carotid intima-medial thickness (CIMT) was estimated on both sides. Results: There was significant correlation between serum homocysteine levels and carotid intima-medial thickness (r = 0.409, p = 0.000). Also after controlling for other possible risk factors it was found that elevations in serum homocysteine levels would cause a variation of 60% in the carotid intima-medial thickening. Conclusion: Serum Hcy levels correlate well with CIMT and hence may predict atherothrombotic events. |
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The early electroclinical manifestations of infantile spasms: A video EEG study |
p. 52 |
Mary Iype, Puthuvathra Abdul Mohammed Kunju, Geetha Saradakutty, Devi Mohan, Shahanaz Ahamed Mohammed Khan DOI:10.4103/0972-2327.168627 PMID:27011629Purpose: Infantile spasms are described as flexor extensor and mixed; but more features of their semiology and ictal electroencephalography (EEG) changes are sparse in the literature. The purpose of the study was to describe the clinical and ictal video-EEG characteristics of consecutive cases with infantile spasms and to try to find an association with the etiology. Materials and Methods: The clinical phenomenology and EEG characteristics on video-EEG were analyzed in 16 babies with infantile spasms. Results: A total of 869 spasms were reviewed. Nine (56.3%) showed focal seizures at least once during the recording and 1 (6.3%) had multifocal myoclonus in addition to the spasms. The duration of the cluster and interval between spasms was totally variable in all patients. Lateralizing phenomena were present in at least some of the spasms in all patients. Unilateral manual automatism in the form of holding the pinna was noted in three patients following the spasm. The ictal EEG activity in the majority (75%) was the slow wave. Four (25%) showed fast generalized spindle-like ictal discharges. Spikes, spike and wave activity, or electrodecremental pattern alone during the ictus was seen in none. On bivariate analysis, no factor noted on the video EEG had association with the etiology. Conclusion: Infantile spasms could be associated with focal and other seizures, has unique, non-uniform and variable semiology from patient to patient. The ictal EEG manifestation in the majority (75%) of our patients was the slow wave transient with 25% showing generalized fast spindle-like activity. |
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Perceived caregiver stress in Alzheimer's disease and mild cognitive impairment: A case control study |
p. 58 |
Kuljeet Singh Anand, Vikas Dhikav, Ankur Sachdeva, Pinki Mishra DOI:10.4103/0972-2327.167695 PMID:27011630Objectives: Cross sectional studies have reported a tremendous amount of stress in caregivers of patients with Alzheimer's disease (AD) and Mild Cognitive Impairment (MCI). The present study aimed at evaluating the perceived stress in caregivers of patients with AD and MCI compared to controls. Materials and Methods: Caregivers of patients diagnosed with Alzheimer's disease/Mild Cognitive Impairment were recruited at the Memory Clinic of Neurology Department of a Tertiary Care Hospital in Northern India. The controls included caregivers of patients with chronic medical and psychiatric disorders. Caregivers were interviewed using Perceived Stress Scale (PSS) and the patients were assessed using The Blessed Activity of Daily Living (ADL), Mini Mental State Examination (MMSE) and Clinical Dementia Rating scale. The perceived stress of caregivers was compared amongst both groups and correlated with the severity of illness and activities of daily living of the patients. Results: Caregivers of a total of 31 patients of AD/MCI (Males = 24, Females = 7), and 30 controls (Males = 18, Females = 12) were interviewed. PSS Score was 23.29 ± 7.17 in cases and 7.5 ± 3.12 in controls. ADL Score was 7.97±5.53 in cases and 0.00 in controls. There was a significant difference between the PSS and ADL scores between those with AD and controls (P < 0.0001). Caregivers of patients with MCI had lower PSS scores compared to AD caregivers but significantly higher scores compared to caregivers of other chronic disorders. Similarly, correlation between Perceived Stress and ADL was significant (P < 0.001). Conclusions: Present study shows that caregivers of patients with AD/MCI have a high perceived stress compared to caregivers of patients with other chronic illness. |
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More clinical observations on migraine associated with monocular visual symptoms in an Indian population |
p. 63 |
Vishal Jogi, Sahil Mehta, Amod Gupta, Paramjeet Singh, Vivek Lal DOI:10.4103/0972-2327.168628 PMID:27011631Context: Retinal migraine (RM) is considered as one of the rare causes of transient monocular visual loss (TMVL) and has not been studied in Indian population. Objectives: The study aims to analyze the clinical and investigational profile of patients with RM. Materials and Methods: This is an observational prospective analysis of 12 cases of TMVL fulfilling the International Classification of Headache Disorders-2nd edition (ICHD-II) criteria of RM examined in Neurology and Ophthalmology Outpatient Department (OPD) of Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh from July 2011 to October 2012. Results: Most patients presented in 3 rd and 4 th decade with equal sex distribution. Seventy-five percent had antecedent migraine without aura (MoA) and 25% had migraine with Aura (MA). Headache was ipsilateral to visual symptoms in 67% and bilateral in 33%. TMVL preceded headache onset in 58% and occurred during headache episode in 42%. Visual symptoms were predominantly negative except in one patient who had positive followed by negative symptoms. Duration of visual symptoms was variable ranging from 30 s to 45 min. None of the patient had permanent monocular vision loss. Three patients had episodes of TMVL without headache in addition to the symptom constellation defining RM. Most of the tests done to rule out alternative causes were normal. Magnetic resonance imaging (MRI) brain showed nonspecific white matter changes in one patient. Visual-evoked potential (VEP) showed prolonged P100 latencies in two cases. Patent foramen ovale was detected in one patient. Conclusions: RM is a definite subtype of migraine and should remain in the ICHD classification. It should be kept as one of the differential diagnosis of transient monocular vision loss. We propose existence of "acephalgic RM" which may respond to migraine prophylaxis. |
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Ventilators in ICU: A boon or burden |
p. 69 |
Man Mohan Mehndiratta, Rajeev Nayak, Sana Ali, Ajay Sharma, Natasha Singh Gulati DOI:10.4103/0972-2327.167706 PMID:27011632Background and Aims: Ventilator-associated pneumonia (VAP) is a major challenge in intensive care units (ICUs). This challenge is even more discernible in a neurological setting owing to the predispositions of patients. Data on VAP in the neurology and neurosurgery ICUs (NNICUs) are scanty in developing countries. This study was conducted to find out the occurrence of VAP, its risk factors, microbiological profile, and antibiotic resistance in patients admitted to the NNICU of a tertiary care institute in India. Materials and Methods: Endotracheal aspirate and blood samples were collected from 100 patients admitted to the NNICU. Complete blood count, microscopic examination, culture and sensitivity testing of aspirate were done. Chest x-ray was also performed to aid in the diagnosis of VAP. Results: Incidence rate of VAP was found to be 24%. Acinetobacter baumannii was the most common pathogen (24.3%) isolated from patients with VAP, and all of these isolates were sensitive to meropenem. Duration of mechanical ventilation (P < 0.0001) and associated comorbid illness (P = 0.005) were found to be significantly associated with VAP, and the duration of mechanical ventilation was found to be the only independent risk factor (P < 0.0001). Conclusions: This study highlights the risks and microbiological perspective of ventilator use among neurology patients so that adequate preventive strategies can be adopted on time. |
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Neuropsychological profile in early Parkinson's disease: Comparison between patients with right side onset versus left side onset of motor symptoms |
p. 74 |
Sikandar Adwani, Ravi Yadav, Keshav Kumar, SR Chandra, Pramod Kumar Pal DOI:10.4103/0972-2327.167711 PMID:27011633Aims: Though impaired cognition in Parkinson's disease (PD) is well known, data in early PD is sparse. This study was designed to assess the cognitive profile in patients with early PD (motor symptoms <5 years and Hoehn and Yahr stage <2), and to compare the cognitive profile between these patients with right versus left side onset of motor symptoms. Materials and Methods: National Institute of National Health and Neurosciences (NIMHANS) neuropsychological battery was used to assess the cognitive profile in 50 patients with early PD and compared with 50 age-, education-, and gender-matched healthy controls. Within the PD group, the cognitive profile was also compared between patients with right side onset motor symptoms (RPD) versus those with left side onset (LPD). The neuropsychological tests assessed the executive functions, memory, attention, visuospatial functions, and psychomotor speed. Results: Among the 50 patients, 25 each were RPD and LPD. The two subgroups were matched for age, gender, education, age at disease onset, disease duration, and degree of motor disability. There was no significant difference between the groups on Hoehn and Yahr staging or Unified Parkinson Disease Rating Scale (UPDRS) motor score. Patients with early PD performed significantly worse in the tasks involving memory, executive functions, and attention compared to controls. However, there was no difference in the cognitive profile between RPD and LPD subgroups. Conclusions: Patients with early PD have cognitive dysfunction with predominant involvement of frontal and temporal lobes. Side of onset of motor symptoms probably does not have significant role in future development or profile of cognitive dysfunction in PD. |
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Intravenous levetiracetam in critically ill children |
p. 79 |
Faruk Incecik, Ozden O Horoz, Ozlem M Herguner, Dincer Yıldızdas, Seyda Besen, Ilknur Tolunay, Sakir Altunbasak DOI:10.4103/0972-2327.167702 PMID:27011634Background: To report the effectiveness and safety of intravenous (IV) levetiracetam (LEV) in the treatment of critically ill children with acute repetitive seizures and status epilepticus (SE) in a children's hospital. Materials and Methods: We retrospectively analyzed data from children treated with IV LEV. Results: The mean age of the 108 children was 69.39 ± 46.14 months (1-192 months). There were 58 (53.1%) males and 50 (46.8%) females. LEV load dose was 28.33 ± 4.60 mg/kg/dose (10-40 mg/kg). Out of these 108 patients, LEV terminated seizures in 79 (73.1%). No serious adverse effects were observed but agitation and aggression were developed in two patients, and mild erythematous rash and urticaria developed in one patient. Conclusion: Antiepileptic treatment of critically ill children with IV LEV seems to be effective and safe. Further study is needed to elucidate the role of IV LEV in critically ill children. |
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Study of visuospatial skill in patients with dementia |
p. 83 |
Asutosh Pal, Atanu Biswas, Alak Pandit, Arijit Roy, Debsankar Guin, Goutam Gangopadhyay, Asit Kumar Senapati DOI:10.4103/0972-2327.168636 PMID:27011635Objectives: To assess the visuospatial function in different types of dementia with the visual object and space perception (VOSP) battery and to relate the degree of visuospatial dysfunction with different types and stages of dementia. Materials and Methods: A sample of 53 participants with dementia and equal number of age-, sex-, and education-matched controls were recruited for the study. Participants were evaluated for visuospatial skill using VOSP test battery. The scores of dementia patients were compared with controls and within dementia cohort scores were compared based on stage of dementia. Results: The dementia group scored low in all of the subtests of the VOSP battery in comparison to controls. Alzheimer's disease (AD), dementia of Lewy bodies (DLB), and vascular dementia (VaD) patients performed more poorly than controls in all subtests examining object perception and space perception. The three semantic variants of frontotemporal dementia (FTD) patients scored low in all four subtests of object perception, whereas behavioral variant FTD (bvFTD) patients performed normally. The scores deteriorated with the advancement of dementia in all patients from the dementia groups. Conclusions: Visuospatial function is significantly impaired in dementia patients particularly in AD, DLB, and VaD patients from the beginning, and the impairment is severe in advanced disease stages. |
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Association of ACE Gene I/D polymorphism with migraine in Kashmiri population |
p. 89 |
Irfan Yousuf Wani, Saleem Sheikh, Zafar Amin Shah, Arshid A Pandith, Mushtaq Wani, Ravouf Asimi, Maqbool Wani, Shahnawaz Sheikh, Iqra Mehraj DOI:10.4103/0972-2327.167698 PMID:27011636Introduction: Migraine is a complex, recurrent headache disorder that is one of the most common complaints in neurology practice. The role of various genes in its pathogenesis is being studied. We did this study to see whether an association exists between ACE gene I/D polymorphism and migraine in our region. Materials and Methods: The study included 100 patients diagnosed with migraine and 121 healthy controls. The study subject were age and gender matched. The analysis was based on Polymerase Chain Reaction (PCR) and included following steps: DNA extraction from blood, PCR and Restriction Fragment Length Polymorphism (RFLP). Results: Out of 100 cases, 69 were females and 31 were males. Fifty-seven were having migraine without aura and 43 had migraine with aura. 45 of the cases had II polymorphism, 40 had ID polymorphism and 15 had DD polymorphism in ACE gene. Conclusion: We were not able to find a statistically significant association between ACE gene I/D polymorphism with migraine. The reason for difference in results between our study and other studies could be because of different ethnicity in study populations. So a continuous research is needed in this regard in order to find the genes and different polymorphism that increase the susceptibility of Kashmiri population to migraine. |
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Occult endocrine dysfunction in patients of cerebrovascular accident |
p. 94 |
K. V. S. Hari Kumar, Sandeep Kumar, Faiz M. H. Ahmad DOI:10.4103/0972-2327.167707 PMID:27011637Background: Cerebrovascular disorders are common conditions leading to significant morbidity and mortality in the population. Occult endocrine disorders also contribute to the morbidity and we studied the prevalence of endocrine dysfunction in patients of cerebrovascular accident (CVA). Materials and Methods: We evaluated 30 patients of CVA (aged 18-75, admission within 72 h of symptoms and positive neuroimaging) in this prospective, observational study. All subjects were assessed clinically and biochemically for hormonal dysfunction at admission and for mortality at the end of 1 month. The patients were divided into two groups: Group 1 (infarct, n = 20) and Group 2 (hemorrhage, n = 10) and the data were analyzed with appropriate statistical tests using GraphPad Prism Software, version 6. Results: The study participants (24M:6F) had a mean age of 60.7 ± 11.4 years and body weight of 67.2 ± 11.4 kg. Fourteen out of 30 patients showed results consistent with an endocrine disorder, including sick euthyroid syndrome (SES) and central hypothyroidism (n = 10), secondary hypogonadism (n = 3), subclinical hypothyroidism (n = 1), and growth hormone (GH) deficiency in two patients. The endocrine conditions did not differ significantly between both the groups and nine out of 30 patients succumbed to their illness within 1 month. None of the hormonal parameters studied, could predict the 30 day mortality. Conclusion: Endocrine disorders are common in acute stage of CVA and commonest finding is a SES. Hormonal dysfunction did not differ based on the etiology of the CVA. Long-term follow-up is essential to understand the morbidity contributed by the hormonal alterations. |
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RESIDENTS CORNER |
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Reversible man-in-the-barrel syndrome in myasthenia gravis |
p. 99 |
Poornima A Shah, Pettarusp Murzban Wadia DOI:10.4103/0972-2327.168639 PMID:27011638Man-in-the-barrel syndrome (MBS) is an uncommon presentation due to bilateral, predominantly proximal muscle weakness that has not been described to be associated with myasthenia gravis. We describe a case of myasthenia gravis presenting as MBS. Additionally, he had significant wasting of the deltoids bilaterally with fibrillations on electromyography (EMG) at rest and brief duration (3-6 ms) bi/triphasic motor unit potentials (MUPs) on submaximal effort apart from a decremental response on repetitive nerve stimulation (RNS) at 2 Hz. While electrophysiology is an important tool in the diagnosis of myasthenia gravis, pathological EMG patterns do not exclude the diagnosis of myasthenia gravis. |
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TECHNICAL NOTE |
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Transcranial Doppler: Techniques and advanced applications: Part 2 |
p. 102 |
Arvind K Sharma, Lokesh Bathala, Amit Batra, Man Mohan Mehndiratta, Vijay K Sharma DOI:10.4103/0972-2327.173407 PMID:27011639Transcranial Doppler (TCD) is the only diagnostic tool that can provide continuous information about cerebral hemodynamics in real time and over extended periods. In the previous paper (Part 1), we have already presented the basic ultrasound physics pertaining to TCD, insonation methods, and various flow patterns. This article describes various advanced applications of TCD such as detection of right-to-left shunt, emboli monitoring, vasomotor reactivity (VMR), monitoring of vasospasm in subarachnoid hemorrhage (SAH), monitoring of intracranial pressure, its role in stoke prevention in sickle cell disease, and as a supplementary test for confirmation of brain death. |
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SHORT COMMUNICATIONS |
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Limb-girdle muscular dystrophy in the Agarwals: Utility of founder mutations in CAPN3 gene |
p. 108 |
Satish V Khadilkar, Chetan R Chaudhari, Rashna S Dastur, Pradnya S Gaitonde, Jayendra G Yadav DOI:10.4103/0972-2327.175435 PMID:27011640Background and Purpose: Diagnostic evaluation of limb-girdle muscular dystrophy type 2A (LGMD2A) involves specialized studies on muscle biopsy and mutation analysis. Mutation screening is the gold standard for diagnosis but is difficult as the gene is large and multiple mutations are known. This study evaluates the utility of two known founder mutations as a first-line diagnostic test for LGMD2A in the Agarwals. Materials and Methods: The Agarwals with limb-girdle muscular dystrophy (LGMD) phenotype were analyzed for two founder alleles (intron 18/exon 19 c.2051-1G>T and exon 22 c.2338G>C). Asymptomatic first-degree relatives of patients with genetically confirmed mutations and desirous of counseling were screened for founder mutations. Results: Founder alleles were detected in 26 out of 29 subjects with LGMD phenotype (89%). The most common genotype observed was homozygous for exon 22 c.2338 G>C mutation followed by compound heterozygosity. Single founder allele was identified in two. Single allele was detected in two of the five asymptomatic relatives. Conclusion: Eighty-nine percent of the Agarwals having LGMD phenotype have LGMD2A resulting from founder mutations. Founder allele analysis can be utilized as the initial noninvasive diagnostic step for index cases, carrier detection, and counseling. |
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Patients with tension-type headaches feel stigmatized |
p. 112 |
Sanjay Prakash DOI:10.4103/0972-2327.168640 PMID:27011641The author, a sufferer of tension-type headache (TTH), believes that the word "tension" in "tension-type headache" carries a social stigma and that patients do not accept a diagnosis of TTH readily. TTH is the most common primary headache disorder. The disability of TTH as a burden of society is greater than that of migraine. Absenteeism because of TTH is higher than that due to migraine. However, patients with TTH do not go for consultation. Even the prevalence of new daily persistent headache (NDPH) is 12 times higher at the headache clinic than that of chronic TTH (CTTH). These points hint that TTH patients probably do not want to visit the clinic. The author believes that it could be because of the stigma attached to "tension." Herein, the author has noted the first responses given by 50 consecutive patients with TTH when they were told that they had been suffering from TTH. The first answer of 64% of patients with TTH was "I do not have any tension/stress ." This denial is similar to the denial declared by patients with depression. Depression and tension are similar in the sense that both are considered as a signs of personal weakness. Such a preconception in the society creates a stigma, and patients deny the diagnosis, conceal symptoms, and become reluctant to seek help and treatment. |
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Two unusual cases of PLA2G6-associated neurodegeneration from India |
p. 115 |
Shilpa D Kulkarni, Meenal Garg, Rafat Sayed, Varsha A Patil DOI:10.4103/0972-2327.168641 PMID:27011642Phospholipase A2-associated neurodegeneration (PLAN) comprises of three disorders with overlapping presentations. The most common of these is classical or infantile-onset phospholipase A2-associated neurodegeneration, also known as infantile neuroaxonal dystrophy (INAD). Only 1 case of INAD has been reported from India till now. We report two genetically confirmed patients seen at a tertiary care pediatric hospital. Both these patients presented with infantile onset of neuroregression. We believe that INAD is underrecognized and underreported from India. |
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Hereditary inclusion body myopathy: A myopathy with unique topography of weakness, yet frequently misdiagnosed: Case series and review of literature |
p. 119 |
Biplab Das, Manoj Kumar Goyal, Sanat Ramchandra Bhatkar, Pulikottil Wilson Vinny, Manish Modi, Vivek Lal, N Gayathri, Anitha Mahadevan, Bishan Dass Radotra DOI:10.4103/0972-2327.167709 PMID:27011643Background: Hereditary inclusion body myopathy (HIBM) continues to be underrecognized clinically despite a characteristic topography of weakness with total sparing of quadriceps muscles and patient being wheelchair bound. We report seven patients of HIBM from four families in North India. Methods and Results: Seven patients from four different families were diagnosed to have HIBM. There was no consanguinity in any of the families. While one patient had two affected siblings, another had one affected siblings and the family history was noncontributory in two patients. Two of the siblings were available for examination and confirmed clinically to be suffering from HIBM. Among the seven patients, only one was still ambulatory at the time of diagnosis. Discussion: This is the first case report of occurrence of HIBM in North Indian population. Despite its unique clinical presentation, HIBM is frequently misdiagnosed resulting in unnecessary diagnostic and therapeutic interventions. A high index of suspicion of this rare myopathy along with proper clinical examination may go a long way in accurate prognostication and management of these patients. |
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IMAGES IN NEUROLOGY |
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Asymmetric crying facies in a neonate with congenital hypoplasia of depressor anguli oris muscle (CHDAOM)  |
p. 123 |
Sujit A Jagtap, Kaustubh S Chaudhari DOI:10.4103/0972-2327.168638 PMID:27011644 |
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MR imaging in rabies encephalitis: A rare entity |
p. 125 |
Parveen Jassi, Ankur Attri, Ritu Dhawan, Chandan Kakkar, Kavita Saggar DOI:10.4103/0972-2327.167712 PMID:27011645 |
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Stroke-like migraine attacks after radiation therapy (SMART) Syndrome causing permanent neurological deficit |
p. 129 |
Dalveer Singh, Charlie Chia-Tsong Hsu DOI:10.4103/0972-2327.165484 PMID:27011646 |
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CASE REPORTS |
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Adult-onset Satoyoshi syndrome and response to plasmapheresis |
p. 131 |
Rajeshwari Aghoram, PR Srijithesh, Sudheeran Kannoth DOI:10.4103/0972-2327.160002 PMID:27011647Satoyoshi syndrome is a rare disease characterized by alopecia, recurrent muscle spasms, diarrhea, and skeletal abnormalities Adult-onset disease is reported only in five patients. Most of the reports have not characterized the nature of muscle spasm in the disease. In this paper, we report the first case of adult-onset Satoyoshi syndrome from India and the clinical and electrophysiological response to plasmapheresis. |
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Posterior reversible encephalopathy syndrome with spinal cord involvement (PRES-SCI): A case report |
p. 134 |
Harsh Vardhan Khokhar, Pradeep Choudhary, Sangeeta Saxena, Mohamed Arif DOI:10.4103/0972-2327.165456 PMID:27011648Posterior reversible encephalopathy syndrome with spinal cord involvement (PRES-SCI) is a recently described entity with a handful of cases reported in literature. We describe a case of PRES in setting of Henoch-Schönlein purpura (HSP) with involvement of brain stem and spinal cord. |
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Tangier's disease: An uncommon cause of facial weakness and non-length dependent demyelinating neuropathy |
p. 137 |
Madhu Nagappa, Arun B Taly, Anita Mahadevan, M Pooja, PS Bindu, YT Chickabasaviah, N Gayathri, Sanjib Sinha DOI:10.4103/0972-2327.175436 PMID:27011649Tangier disease is an autosomal recessive disorder characterized by an abnormal accumulation of cholesterol esters in various organs secondary to adenotriphosphate binding cassette transporter A-1 (ABCA-1) transporter deficiency and disrupted reverse cholesterol transport. It causes neuropathy in half of the affected individuals. We present the clinical, electrophysiological, and histopathological findings in a middle aged gentleman of Tangier disease who was initially misdiagnosed leprosy and treated with antileprosy drugs. The presence of a demyelinating neuropathy on electrophysiology in a patient with predominant upper limb involvement and facial diplegia should raise the suspicion of Tangier disease. The characteristic lipid profile of Tangier disease was noted in this patient viz. extremely low high density lipoprotein (HDL), elevated triglyceride (TG), and reduced apolipoprotein A1. Estimation of serum lipids should form a part of routine evaluation in order to avoid misdiagnosis. |
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Adult-onset Leigh's disease: A rare entity |
p. 140 |
Shaik Afshan Jabeen, G Sandeep, Kandadai Rukmini Mridula, Angamuttu Kanikannan Meena, Rupam Borgohain, Challa Sundaram DOI:10.4103/0972-2327.175437 PMID:27011650Leigh syndrome (LS) is a heterogeneous familial or sporadic neurodegenerative disorder. It is typically seen in infancy or childhood, although rare cases of adult onset have been described. The authors describe a 37-year-old woman who presented with protracted gastrointestinal symptoms followed by acute brain stem syndrome with severe metabolic acidosis and who subsequently showed dramatic clinical and neuroradiological improvement. |
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Recurrent headache in a five year old boy |
p. 143 |
Lokesh Saini, Ranjith M Kumar, Biswaroop Chakrabarty, Sheffali Gulati DOI:10.4103/0972-2327.160085 PMID:27011651Headache is infrequent in early childhood. Headache and neurological deficits associated with cerebrospinal fluid (CSF) lymphocytosis (HaNDL), a variant of migraine, is a rare disorder. A 5-year-old boy presented with recurrent episodes of headache for 6 months. Each episode lasted for a week and in the current episode, he was symptomatic for 3 days. All the episodes were associated with paresthesias and CSF lymplocytosis with normal protein and sugar. There was history of migraine in his family. His magnetic resonance imaging (MRI) brain with contrast with magnetic resonance (MR) angiography and venography were normal. Work-up for relevant causes of infection and vasculitis were negative. His symptoms subsided on oral antimigraine prophylaxis and he has been on remission for last 8 months. HaNDL should be considered in relevant clinical scenarios, as it prevents unnecessary investigations, therapy, and hospitalization. |
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A unique combination of autoimmune limbic encephalitis, type 1 diabetes, and Stiff person syndrome associated with GAD-65 antibody |
p. 146 |
Chandra Mohan Sharma, Rajendra Kumar Pandey, Banshi Lal Kumawat, Dinesh Khandelwal, Pankaj Gandhi DOI:10.4103/0972-2327.165462 PMID:27011652Antibodies to GAD-65 have been implicated in the pathogenesis of type 1 diabetes , limbic encephalitis and Stiff person syndrome, however these diseases rarely occur concurrently. We intend to present a rare case of 35 year old female who was recently diagnosed as having type 1 diabetes presented with 1½ month history of recurrent seizures, subacute onset gait ataxia, dysathria, psychiatric disturbance and cognitive decline. No tumor was found on imaging and the classic paraneoplastic panel was negative. Cerebrospinal fluid and blood was positive for GAD-65 antibodies.Patient showed significant improvement with immunomodulatory therapy. Association of GAD-65 antibodies has been found with various disorders including type 1 diabetes, limbic encephalitis, Stiff person syndrome,cerebellar ataxia and palatal myoclonus.This case presents with unique combination of type 1 diabetes, Stiff person syndrome and limbic encephalitis associated with GAD-65 antibodies that is responsive to immunotherapy. It also highlights the emerging concept of autoimmunity in the causation of various disorders and there associations. |
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Laryngeal carcinoma presenting as polymyositis: A paraneoplastic syndrome |
p. 150 |
Ritesh Sahu, Bhanu Pratap Rathaur, Tejendra Sukdeo Chaudhari, Rakesh Shukla, Kiran Preet Malhotra DOI:10.4103/0972-2327.170571 PMID:27011653Laryngeal carcinoma is rarely associated with paraneoplastic syndrome. Inflammatory myopathy presenting as paraneoplastic event is commonly associated with carcinomas of ovary, lung, pancreas, stomach, colorectal, and non-Hodgkin's lymphoma. We report a case of elderly male, who presented with proximal muscle weakness and found to be associated with laryngeal carcinoma. Diagnosis of polymyositis (PM) was confirmed based on clinical features, laboratory test, and muscle biopsy. Exclusion of other commonly associated malignancies was done. This patient improved gradually after 6 months of immunosuppressive therapy and management of underlying cancer. |
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"Person in the barrel" syndrome: Unusual heralding presentation of squamous cell carcinoma of the lung |
p. 152 |
Rajesh Verma, Rakesh Lalla, Tushar B Patil, Suresh Babu DOI:10.4103/0972-2327.167693 PMID:27011654Paraneoplastic neurological syndromes (PNS) are rare and relatively unusual in day to day clinical practice. Occasionally, PNS may be the heralding manifestation of the malignancy. Paraneoplastic syndromes are most commonly associated with small cell lung carcinoma and are rarely seen with non small cell lung carcinoma. In this case, we report a non-smoker, middle aged lady, who presented with "person in the barrel" syndrome due to myelo radiculoplexopathy as the first clinical manifestation of squamous cell carcinoma of the lung. |
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LETTERS TO THE EDITOR |
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Spinal cord infarction after bronchial artery embolization |
p. 156 |
Boby Varkey Maramattom, BP Krishna Prasad, Sandeep Padmanabhan, Jacob Baby DOI:10.4103/0972-2327.175494 PMID:27011655 |
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Torticollis, head bobbing and oscillatory eye movements in a 14 year old child |
p. 158 |
Kalyan B Bhattacharyya, BK Roy, AK Dutta, B Mondal, P Biswas DOI:10.4103/0972-2327.175500 PMID:27011656 |
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A surprising cause of isolated oculomotor nerve palsy with pupillomotor palsy |
p. 159 |
Rohan R Mahale, Anish Mehta, Abhinandan Shankar, Kiran Buddaraju, R Srinivasa DOI:10.4103/0972-2327.173300 PMID:27011657 |
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Neurological complications due to chicken pox in adults: A retrospective study of 20 patients |
p. 161 |
Deepak Amalnath, Aishwarya Karthikeyan, Venkatesh Thammishetti, Dharanipragada Krishna Suri Subrahmanyam, Deepanjali Surendran DOI:10.4103/0972-2327.173306 PMID:27011658 |
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Cerebral hemi-atrophy and seizures: Some facts |
p. 163 |
Khichar Purnaram Shubhakaran, Bharat Bhushan DOI:10.4103/0972-2327.168637 PMID:27011659 |
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Cognitive markers of mild cognitive impairment: An Indian experience |
p. 164 |
Ravikesh Tripathi, Keshav Kumar, Rakesh Balachandar, Palaniappan Marimuthu, Mathew Varghese, Srikala Bharath DOI:10.4103/0972-2327.175513 PMID:27011660 |
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OBITUARY |
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Oliver Sacks: Poet laureate of neurology |
p. 165 |
Apoorva Pauranik |
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