1.A Stack-based Ensemble Framework for Detecting Cancer MicroRNA Biomarkers
Saha SRIPARNA ; Mitra SAYANTAN ; Yadav Kant RAVI
Genomics, Proteomics & Bioinformatics 2017;15(6):381-388
MicroRNA (miRNA) plays vital roles in biological processes like RNA splicing and regulationof gene expression. Studies have revealed that there might be possible links between oncogenesisand expression profiles of some miRNAs, due to their differential expression betweennormal and tumor tissues. However, the automatic classification of miRNAs into different categoriesby considering the similarity of their expression values has rarely been addressed. This articleproposes a solution framework for solving some real-life classification problems related to cancer,miRNA, and mRNA expression datasets. In the first stage, a multiobjective optimization basedframework, non-dominated sorting genetic algorithm II, is proposed to automatically determinethe appropriate classifier type, along with its suitable parameter and feature combinations, pertinentfor classifying a given dataset. In the second page, a stack-based ensemble technique is employed toget a single combinatorial solution from the set of solutions obtained in the first stage. The performanceof the proposed two-stage approach is evaluated on several cancer and RNA expression profiledatasets. Compared to several state-of-the-art approaches for classifying different datasets, ourmethod shows supremacy in the accuracy of classification.
2.Long-Term Outcome of Hemimasticatory Spasm
Somdattaa RAY ; Nitish KAMBLE ; Ravi YADAV ; Pramod Kumar PAL
Journal of Movement Disorders 2022;15(2):146-150
Objective:
This study aims to identify the demographic, clinical, and therapeutic characteristics of four patients with hemimasticatory spasm (HMS) seen in our outpatient department over a period of 20 years.
Methods:
We performed a retrospective chart review of four patients with HMS who visited outpatient services in the Department of Neurology from 2001 to 2020.
Results:
The follow-up for all patients ranged from 2 years to 9 years. Three patients had facial or bucco-oral morphea. Two patients maintained long-term improvements in symptoms after being treated with botulinum toxin for 4–7 years, while one patient reported improvement in symptoms with treatment of carbamazepine that subsequently remitted after pregnancy.
Conclusion
This report highlights the long-term outcome of HMS in our patients. Our patients reported a significant reduction or complete resolution of symptoms after treatment, and eventually, two patients were asymptomatic while off treatment.
3.Polysomnographic Evaluation of Sleep Disorders in Essential Tremor and Essential Tremor Plus: A Comparison With Healthy Controls
Ravi Prakash SINGH ; Mythirayee S ; Doniparthi Venkata SESHAGIRI ; Gulshan KUMAR ; Rohan MOHALE ; Pramod Kumar PAL ; Bindu M KUTTY ; Jitender SAINI ; Nitish L KAMBLE ; Vikram HOLLA ; Ravi YADAV
Journal of Movement Disorders 2025;18(1):45-54
Objective:
To explore sleep patterns in individuals with essential tremor (ET) and essential tremor plus (ET-Plus) compared with healthy controls and assess differences between ET and ET-Plus, given the lack of established polysomnography (PSG) data on these groups and the potential for sleep disturbances to serve as clinical markers.
Methods:
We conducted a prospective cross-sectional study at National Institute of Mental Health and Neurosciences, Bengaluru, from November 2021 to August 2023 on 45 patients (26 ET, 19 ET-Plus) and 45 controls. Tremor severity was assessed using The Essential Tremor Rating Assessment Scale (TETRAS) and Fahn‐Tolosa‐Marin Clinical Rating Scale (FTMRS). Sleep symptoms were assessed via the Epworth Sleepiness Scale, Pittsburgh Sleep Quality Index, Mayo Sleep Questionnaire, restless legs syndrome questionnaire, Berlin questionnaire, Generalized Anxiety Disorder Scale 7, and Patient Health Questionnaire-9. All patients and controls underwent overnight video PSG. Sleep scoring was manually performed by a trained sleep research technician and the first author following the American Academy of Sleep Medicine (2017) guidelines, with data analyzed using R studio.
Results:
Compared with ET-Plus patients, ET patients had a younger onset age (46.8±11.1 years versus 30.8±16.7 years, respectively). Compared with ET patients, ET-Plus patients had higher TETRAS and FTMRS scores (p<0.005). Compared with controls, both ET patients and ET-Plus patients presented poorer sleep quality, excessive daytime sleepiness, rapid eye movement (REM) sleep behavior disorder, and restless legs syndrome symptoms. PSG findings supported these clinical observations, showing an elevated apnea‒hypopnea index, reduced total sleep time, prolonged REM latency, decreased sleep efficiency, increased N1 stage duration, and reduced N2/N3 durations and percentages in patients versus controls.
Conclusion
The study highlights significant sleep architecture abnormalities in both ET and ET-Plus patients compared with healthy controls, with no differences between the ET groups.
4.Polysomnographic Evaluation of Sleep Disorders in Essential Tremor and Essential Tremor Plus: A Comparison With Healthy Controls
Ravi Prakash SINGH ; Mythirayee S ; Doniparthi Venkata SESHAGIRI ; Gulshan KUMAR ; Rohan MOHALE ; Pramod Kumar PAL ; Bindu M KUTTY ; Jitender SAINI ; Nitish L KAMBLE ; Vikram HOLLA ; Ravi YADAV
Journal of Movement Disorders 2025;18(1):45-54
Objective:
To explore sleep patterns in individuals with essential tremor (ET) and essential tremor plus (ET-Plus) compared with healthy controls and assess differences between ET and ET-Plus, given the lack of established polysomnography (PSG) data on these groups and the potential for sleep disturbances to serve as clinical markers.
Methods:
We conducted a prospective cross-sectional study at National Institute of Mental Health and Neurosciences, Bengaluru, from November 2021 to August 2023 on 45 patients (26 ET, 19 ET-Plus) and 45 controls. Tremor severity was assessed using The Essential Tremor Rating Assessment Scale (TETRAS) and Fahn‐Tolosa‐Marin Clinical Rating Scale (FTMRS). Sleep symptoms were assessed via the Epworth Sleepiness Scale, Pittsburgh Sleep Quality Index, Mayo Sleep Questionnaire, restless legs syndrome questionnaire, Berlin questionnaire, Generalized Anxiety Disorder Scale 7, and Patient Health Questionnaire-9. All patients and controls underwent overnight video PSG. Sleep scoring was manually performed by a trained sleep research technician and the first author following the American Academy of Sleep Medicine (2017) guidelines, with data analyzed using R studio.
Results:
Compared with ET-Plus patients, ET patients had a younger onset age (46.8±11.1 years versus 30.8±16.7 years, respectively). Compared with ET patients, ET-Plus patients had higher TETRAS and FTMRS scores (p<0.005). Compared with controls, both ET patients and ET-Plus patients presented poorer sleep quality, excessive daytime sleepiness, rapid eye movement (REM) sleep behavior disorder, and restless legs syndrome symptoms. PSG findings supported these clinical observations, showing an elevated apnea‒hypopnea index, reduced total sleep time, prolonged REM latency, decreased sleep efficiency, increased N1 stage duration, and reduced N2/N3 durations and percentages in patients versus controls.
Conclusion
The study highlights significant sleep architecture abnormalities in both ET and ET-Plus patients compared with healthy controls, with no differences between the ET groups.
5.Polysomnographic Evaluation of Sleep Disorders in Essential Tremor and Essential Tremor Plus: A Comparison With Healthy Controls
Ravi Prakash SINGH ; Mythirayee S ; Doniparthi Venkata SESHAGIRI ; Gulshan KUMAR ; Rohan MOHALE ; Pramod Kumar PAL ; Bindu M KUTTY ; Jitender SAINI ; Nitish L KAMBLE ; Vikram HOLLA ; Ravi YADAV
Journal of Movement Disorders 2025;18(1):45-54
Objective:
To explore sleep patterns in individuals with essential tremor (ET) and essential tremor plus (ET-Plus) compared with healthy controls and assess differences between ET and ET-Plus, given the lack of established polysomnography (PSG) data on these groups and the potential for sleep disturbances to serve as clinical markers.
Methods:
We conducted a prospective cross-sectional study at National Institute of Mental Health and Neurosciences, Bengaluru, from November 2021 to August 2023 on 45 patients (26 ET, 19 ET-Plus) and 45 controls. Tremor severity was assessed using The Essential Tremor Rating Assessment Scale (TETRAS) and Fahn‐Tolosa‐Marin Clinical Rating Scale (FTMRS). Sleep symptoms were assessed via the Epworth Sleepiness Scale, Pittsburgh Sleep Quality Index, Mayo Sleep Questionnaire, restless legs syndrome questionnaire, Berlin questionnaire, Generalized Anxiety Disorder Scale 7, and Patient Health Questionnaire-9. All patients and controls underwent overnight video PSG. Sleep scoring was manually performed by a trained sleep research technician and the first author following the American Academy of Sleep Medicine (2017) guidelines, with data analyzed using R studio.
Results:
Compared with ET-Plus patients, ET patients had a younger onset age (46.8±11.1 years versus 30.8±16.7 years, respectively). Compared with ET patients, ET-Plus patients had higher TETRAS and FTMRS scores (p<0.005). Compared with controls, both ET patients and ET-Plus patients presented poorer sleep quality, excessive daytime sleepiness, rapid eye movement (REM) sleep behavior disorder, and restless legs syndrome symptoms. PSG findings supported these clinical observations, showing an elevated apnea‒hypopnea index, reduced total sleep time, prolonged REM latency, decreased sleep efficiency, increased N1 stage duration, and reduced N2/N3 durations and percentages in patients versus controls.
Conclusion
The study highlights significant sleep architecture abnormalities in both ET and ET-Plus patients compared with healthy controls, with no differences between the ET groups.
6.Patient Knowledge, Attitude and Perceptions towards Botulinum Toxin Treatment for Movement Disorders in India
Thavasimuthu Nisha MOL ; Nitish KAMBLE ; Vikram V. HOLLA ; Rohan MAHALE ; Pramod Kumar PAL ; Ravi YADAV
Journal of Movement Disorders 2021;14(2):126-132
Objective:
There is limited literature on the knowledge, attitude, and perceptions (KAP) of botulinum toxin (BoNT) treatment among patients and caregivers. The objective of this study was to assess the KAP in patients undergoing BoNT treatment for movement disorders.
Methods:
One hundred patients with movement disorders from National Institute of Mental Health and Neurosciences Hospital in Bengaluru, South India, were recruited. The patients underwent demographic, clinical, and Patient Knowledge Questionnaire on Botulinum Toxin Use in Movement Disorders (PKQ-BMD)-based evaluations.
Results:
The mean age of patients at the time of presentation was 47.97 ± 14.19 years (range, 12–79). Of all the patients, 26 (28%) patients were anxious, and 86% of these patients were reassured after appropriate counseling. There were 83 (89%) patients who found BoNT to be a costlier option. Education and previous Internet searches influenced positive performance in the “knowledge” domain and overall PKQ-BMD scores. The “number of injections” was also positively correlated with KAP performance.
Conclusion
This study showed that knowledge and perceptions about BoNT treatment need to be further improved. Wider availability of the Internet has provided a positive impact on patients’ and carers’ KAP. Internet-based information, higher educational qualifications of the patients, and a higher number of BoNT injection sessions are the most important predictors of satisfactory KAP related to BoNT injection treatment in patients with movement disorders.
7.Clinical and Imaging Profile of Patients with Joubert Syndrome
Bharath Kumar SURISETTI ; Vikram Venkappayya HOLLA ; Shweta PRASAD ; Koti NEERAJA ; Nitish KAMBLE ; Ravi YADAV ; Pramod Kumar PAL
Journal of Movement Disorders 2021;14(3):231-235
Objective:
Joubert syndrome (JS) is a rare syndrome characterized by ataxia and the molar tooth sign (MTS) on imaging. The present study aims to explore the clinical and radiological features in a cohort of patients with JS.
Methods:
This was a retrospective chart review of patients with JS evaluated by movement disorder specialists.
Results:
Nine patients were included in the study. All patients had facial dysmorphism and ocular abnormalities, and 4 patients had dystonia. Ocular tilt reaction and alternate skew deviation (66%) were the most common ocular abnormalities. Horizontally aligned superior cerebellar peduncles were observed in all four patients with diffusion tensor imaging, with a lack of decussation in three. Exome sequencing performed in four patients revealed novel variants in the MKS1, CPLANE1, and PIBF1 genes.
Conclusion
Facial dysmorphism, ocular abnormalities and classical imaging findings were observed in all patients with JS. Apart from ataxia, dystonia and myoclonus are other movement disorders observed in JS.
9.Movement Disorders Associated With Radiotherapy and Surgical Procedures
Bharath Kumar SURISETTI ; Shweta PRASAD ; Vikram Venkappayya HOLLA ; Nitish KAMBLE ; Ravi YADAV ; Pramod Kumar PAL
Journal of Movement Disorders 2023;16(1):42-51
Occasionally, movement disorders can occur following interventional procedures including but not limited to radiotherapy, dental procedures, and cardiac, cerebral and spinal surgeries. The majority of these disorders tend to be unexpected sequelae with variable phenomenology and latency, and they can often be far more disabling than the primary disease for which the procedure was performed. Owing to poor knowledge and awareness of the problem, delays in diagnosing the condition are common, as are misdiagnoses as functional movement disorders. This narrative review discusses the phenomenology, pathophysiology, and potential treatments of various movement disorders caused by interventional procedures such as radiotherapy and neurological and non-neurological surgeries and procedures.