Vogt-Koyanagi-Harada (VKH) syndrome is an immune-mediated granulomatous disease which affects melanin-rich organs like eyes, skin, nervous system, and ears. Neurological and auditory manifestations ...usually precede the involvement of other sites. Patients may manifest with "complete" or "incomplete" syndrome. We report two patients who presented with acute headache and impaired vision. Fundus examination revealed optic disc hyperemia and exudative retinal detachment which provided a clue for the diagnosis at the bedside. Fundus fluorescein angiogram (FFA) revealed abnormal dye leakage, whereas B scan showed choroid thickening. Cerebrospinal fluid (CSF) pleocytosis contrasted with unremarkable brain magnetic resonance imaging and lack of meningeal signs. Melanophagocytosis was evidenced by melanin-laden macrophages in CSF and skin biopsy. This finding is specific for VKH syndrome and helps to clinch the diagnosis even when the complete syndrome is not present cross-sectionally. VKH syndrome should be suspected in patients with aseptic meningitis if tests for common infectious and immune-mediated diseases are negative.
Abstract Deficiency of gamma-amino-butyrate aminotransferase (ABAT) is a rare inherited disorder. A six-month-old girl presented with hyper-somnolence, hyperkinetic movements of distal extremities ...during wakefulness, hypotonia, bi-pyramidal signs, and impaired response to sound and visual stimuli. Brain MRI at five months showed restricted diffusion along the internal capsule and genu of corpus callosum. A follow up MRI at 18 months, showed hyperintensities in brainstem, external and internal capsule, ‘trilaminated’ appearance of posterior limb of internal capsule and dysmyelination of sub-cortical white matter. MRS showed a peak between 2.2 ppm and 2.4 ppm, corresponding to glutamine, glutamate and GABA. EEG was normal at six months but showed multifocal epileptiform discharges at 18 months. Targeted exome sequencing revealed compound heterozygous missense variations in ABAT resulting in its reduced function. We report the novel association of hypersomnolence and hyperkinetic movement disorder with ABAT variations thus expanding the clinical spectrum of this uncommon neuro-metabolic disorder and discuss the emerging role of GABA in pathways regulating sleep-wake cycle and movement disorders.
Abstract Background: Mutation in the SURF1 is one of the most common nuclear mutations associated with Leigh syndrome and cytochrome c oxidase deficiency. This study aims to describe the phenotypic ...and imaging features in four patients with Leigh syndrome and novel SURF1 mutation. Methods: The study included four patients with Leigh syndrome and SURF1 mutations identified from a cohort of 25 children with Leigh syndrome seen over a period of six years (2006–2012). All the patients underwent a detailed neurological assessment, muscle biopsy, and sequencing of the complete mitochondrial genome and SURF1. Results: Three patients had classical presentation of Leigh syndrome. The fourth patient had a later age of onset with ataxia as the presenting manifestation and a stable course. Hypertrichosis, facial dysmorphism and hypopigmentation were the additional phenotypic features noted. On magnetic resonance imaging all patients had brainstem and cerebellar involvement and two had basal ganglia involvement in addition. The bilateral symmetrical hypertrophic olivary degeneration in these patients was striking. The SURF1 analysis identified previously unreported mutations in all the patients. On follow-up three patients expired and one had a stable course. Conclusions: Patients with Leigh syndrome and SURF1 mutation often have skin and hair abnormalities. Bilateral symmetrical hypertrophic olivary degeneration was a consistent finding on magnetic resonance imaging in these patients.
Recent outbreak of COVID-19 pandemic has provided strong impetus to supply chain resilience research. In a volatile and uncertain business environment, resilience can be incorporated by developing ...and implementing effective risk mitigation strategies. In this research, risk mitigation strategies for environmentally sustainable clothing supply chain have been prioritised by considering their efficacy to mitigate various risks. Twelve risks and thirteen mitigation strategies, identified through literature review and experts' opinion, are considered as decision criteria and alternatives respectively. Fuzzy Technique for Order Preference by Similarity to Ideal Solutions (fuzzy TOPSIS) is implemented under a group decision making scenario for prioritising the strategies. Developing supply chain agility; multiple green sourcing and flexible capacities; adoption of green practices; building trust, coordination and collaboration; and alignment of economic incentives and revenue sharing are found to be dominant risk mitigation strategies for environmentally sustainable clothing supply chain. These strategies have been viewed through the lens of resource dependence, change management and transaction cost theories. Organisation desirous to build resilience in their supply chain can prioritise the risk mitigation strategies and adopt a portfolio of strategies based on the outcome of this research.
Introduction. Excessive cortical synchrony within neural ensembles has been implicated as an important mechanism driving epileptiform activity. The current study measures and compares background ...electroencephalographic (EEG) phase synchronization in patients having various types of epilepsies and healthy controls during awake and sleep stages. Methods. A total of 120 patients with epilepsy (PWE) subdivided into 3 groups (juvenile myoclonic epilepsy JME, temporal lobe epilepsy TLE, and extra-temporal lobe epilepsy Ex-TLE; n = 40 in each group) and 40 healthy controls were subjected to overnight polysomnography. EEG phase synchronization (SI) between the 8 EEG channels was assessed for delta, theta, alpha, sigma, and high beta frequency bands using ensemble measure on 10-second representative time windows and compared between patients and controls and also between awake and sleep stages. Mean ± SD of SI was compared using 2-way analysis of variance followed by pairwise comparison (P ≤ .05). Results. In both delta and theta bands, the SI was significantly higher in patients with JME, TLE, and Ex-TLE compared with controls, whereas in alpha, sigma, and high beta bands, SI was comparable between the groups. On comparison of SI between sleep stages, delta band: progressive increase in SI from wake ⇒ N1 ⇒ N2 ⇒ N3, whereas REM (rapid eye movement) was comparable to wake; theta band: decreased SI during N2 and increase during N3; alpha band: SI was highest in wake and lower in N1, N2, N3, and REM; and sigma and high beta bands: progressive increase in SI from wake ⇒ N1 ⇒ N2 ⇒ N3; however, sigma band showed lower SI during REM. Conclusion. This study found an increased background cortical synchronization in PWE compared with healthy controls in delta and theta bands during wake and sleep. This background hypersynchrony may be an important property of epileptogenic brain circuitry in PWE, which enables them to effortlessly generate a paroxysmal EEG depolarization shift.
PurposeIt has been long debated whether the three bottom lines of sustainability (economic, environmental and social) can be achieved simultaneously or whether achieving one adversely affects the ...others. This paper analyses the economic sustainability of an environmental initiative, namely, effluent treatment plant (ETP), adopted by an Indian textile industry.Design/methodology/approachTwo situations have been considered for the analysis. First, pure economic view with the operating and installed capacities has been considered. Second, combined economic-environmental view using shadow prices of undesirable outputs (biological oxygen demand, chemical oxygen demand, total nitrogen, total phosphorous, etc.) has been analysed.FindingsIt has been found that when pure economic view is considered, the net present value (NPV) of the ETP with present operating capacity (10,200 kL/day) is negative, implying that it is not economically sustainable. However, if the ETP is operated with the full installed capacity (17,000 kL/day), it becomes economically sustainable except in the case of very high cost of capital (13%). Finally, when shadow prices of undesirable outputs are considered, the NPV becomes positive, bolstering the economic-environmental sustainability of ETP.Research limitations/implicationsIn future, multiple case studies should be conducted in similar organisations to extend the general applicability of the outcome of this study. This research considers the economic and environmental aspects of ETP. However, social benefits have not been considered in this research work, which can definitely be addressed in future endeavours.Practical implicationsThough very high capital investment of ETP acts as a barrier, the results of this study imply that the top management of textile and clothing organisations should look at it from the holistic economic-environmental viewpoint. The use of ETP also leads to social benefits by improving the health of local community and by reducing their hospitalisation, medical expenditure and absenteeism from school and workplace. The outcome of this research may enthuse the entrepreneurs to adopt environmental initiatives.Originality/valueThe paper provides a framework to evaluate the economic feasibility of ETP by considering the time value of money. It is demonstrated with a real case that the environmental initiatives can be economically rewarding.
INTRODUCTION: Optimizing the surgical outcome of people with drug-resistant epilepsy (DRE) and malformations of cortical development (MCD) can be quite challenging. The studies are limited in this ...regard, especially from the low and middle income countries (LAMIC). METHODS: Between April, 2011 and March, 2023, 584 people with drug resistant epilepsy underwent surgery at NIMHANS, Bangalore, India. MCD as an underlying substrate have been identified among 170 patients. Different types of MCD, their pre-surgical evaluation, surgical strategy and outcome predictors have been studied. RESULTS: Cohort consists of 170 people with a mean age at surgery of 17.01 ± 10.94 (range 1.2 – 60) years. Mean age at seizure onset of 7.45 ± 7.39 (range 1 month to 40) years. The mean duration of epilepsy before surgery of 9.17 ± 7.58 (range 1-32) years. Males constituted 62.35% of patients (n= 106). Mean seizure score of the cohort was at 8.61 ± 1.34 (range 4-12 on a scale of 0 -12). Lifetime drugs tried by the cohort ranged from 1- 6 with mean of 2.85 ± 0.95. FCD was noted in 120 patients (70.587%). At a mean follow up of 4.66 ± 2.80 years, cohort had an Engel outcome class Ia, I, II, III and IV of 71.1%, 83.6%, 3.1%, 7.80% and 5.5 % respectively. Range of current AEDs used by the cohort is nil to 5, with mean of 2.28 ± 1.41. CONCLUSIONS: In this study, three variables were found to influence the outcome towards favourable arm of Engel class Ia. These factors are histopathology of FCD with balloon cells, glioneuronal aetiology and an age of less than 18 years at the time of surgery.
Abstract Background: Epilepsy is an early and important feature in Menkes disease (MD), an X-linked recessive neurodegenerative disorder of childhood with defect in copper metabolism. There are only ...few reports on the electro-clinical and magnetic resonance imaging correlates in Menkes disease. The current study describes the electro-clinical features in MD in relation with the structural findings on MRI. Patients and Methods: Six patients from five families were evaluated between 2005 and 2011. Their diagnosis was based on the characteristic morphological features, microscopic evidence of pili torti and low copper and ceruloplasmin levels. All the patients underwent MRI and EEG as part of the evaluation. Results: All patients had classical form of MD with typical morphological features. All but one patient had refractory seizures. Seizure types included multifocal clonic seizures ( n = 3), myoclonic jerks ( n = 4) and tonic spasms ( n = 1). EEG was markedly abnormal in all except in the patient without clinical seizures. While focal epileptiform discharges predominated before six months of age modified hypsarrhythmia was characteristically noted thereafter. MR Imaging revealed abnormalities in all patients, with cerebral atrophy and delayed myelination being the most common observations. Other features noted were subdural effusion ( n = 3), leukoencephalopathy ( n = 3) and basal ganglia signal changes ( n = 1). Follow up imaging in three patients showed resolution of white matter signal intensity changes. Conclusions: Electro-clinical features in Menkes disease are age dependent and evolve sequentially. White matter changes coincided with acute exacerbation of seizures. There was fair correlation between the electro-clinical features and structural findings on MRI.
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