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Background and Objectives: Parkinson's disease (PD) is a neurodegenerative disorder involving depletion of dopaminergic neurons. Pathogenetic mechanisms leading to striatonigral degeneration are debatable. Chronic inflammation is proposed as one of the mechanisms. In any disease with underlying inflammation, immune system mediators called cytokines are released, leading to a procoagulant state. Our aim was to study the coagulation parameters in patients with PD and find their correlation with disease duration and antiparkinsonian drugs. Methods: This cross-sectional study was conducted between January 2021 and December 2021 in a tertiary care center. Sixty-eight patients with PD were subcategorized based on disease duration ( Results: In our cohort of 68 patients, 53 were men and 15 were women. Mean disease duration was 5.97 ± 4.37 years. Hb was negatively associated with LEDD (P = 0.012) and duration of the disease (P = 0.02). Similarly, PT was negatively associated with disease duration (P = 0.041) and number of antiparkinsonian drugs (P = 0.03). LEDD showed a positive association with collagen-induced platelet aggregation (P = 0.03). Conclusions: In our study, patients using multiple antiparkinsonian drugs and higher LEDD were observed to have a prothrombotic state. Further studies are needed to confirm these findings. Keywords: Parkinson's disease, coagulation parameters, antiparkinsonian drugs, prothrombotic state, hemostatic system, Author(s): Varun Kodam [1]; Sandesh Nanisetty [1]; Sravan K Goud [1]; Rukmini M Kandadai (corresponding author) [1]; Surya P Turaga [1]; Shaik A Jabeen [1]; Rupam Borgohain [1] Introduction Parkinson's [...]

Background and Objectives: Parkinson’s disease (PD) is a neurodegenerative disorder involving depletion of dopaminergic neurons. Pathogenetic mechanisms leading to striatonigral degeneration are debatable. Chronic inflammation is proposed as one of the mechanisms. In any disease with underlying inflammation, immune system mediators called cytokines are released, leading to a procoagulant state. Our aim was to study the coagulation parameters in patients with PD and find their correlation with disease duration and antiparkinsonian drugs. Methods: This cross-sectional study was conducted between January 2021 and December 2021 in a tertiary care center. Sixty-eight patients with PD were subcategorized based on disease duration (

The benefits of large-scale genetic studies for healthcare of the populations studied are well documented, but these genetic studies have traditionally ignored people from some parts of the world, such as South Asia. Here we describe whole genome sequence (WGS) data from 4806 individuals recruited from the healthcare delivery systems of Pakistan, India and Bangladesh, combined with WGS from 927 individuals from isolated South Asian populations. We characterize population structure in South Asia and describe a genotyping array (SARGAM) and imputation reference panel that are optimized for South Asian genomes. We find evidence for high rates of reproductive isolation, endogamy and consanguinity that vary across the subcontinent and that lead to levels of rare homozygotes that reach 100 times that seen in outbred populations. Founder effects increase the power to associate functional variants with disease processes and make South Asia a uniquely powerful place for population-scale genetic studies.

OBJECTIVE: To assess the effect of bilateral subthalamic nucleus deep brain stimulation (B/L STN DBS) on the progression of dyskinesia and the levodopa equivalent daily dose (LEDD) in advanced Parkinson’s disease (APD) patients 6 months postoperatively. METHODS: Seventeen APD patients aged 21–80 years with the minimum modified Hoen & Yahr score of 2 while off medication and poor motor function underwent B/L STN DBS from January 2021 to December 2021. They were assessed preoperatively and 6 months postoperatively using the Unified dyskinesia rating scale (UDysRS) and Unified Parkinson’s Disease Rating Scale Part IV (UPDRS IV) for dyskinesia and LEDD dosage. RESULTS: Significant improvement was observed postoperatively in both UDysRS (pre-op 66.53 ± 24.59, post-op 30.88 ± 12.01; P = 0.000) and UPDRS IV (pre-op 9.24 ± 1.75, post-op 5.76 ± 1.39; P = 0.000) scores. The overall clinical improvement using UDysRS was 52.23 ± 16.23%. Each subscale of UDysRS showed significant improvement postoperatively: ON dyskinesia (pre-op 21 ± 7.7, post-op 13.76 ± 5.79; P < 0.05); OFF dystonia (pre-op 8.53 ± 3.26, post-op 4.94 ± 2.70; P < 0.05); impairment (face, pre-op 2.47 ± 2.52, post-op 0.29 ± 0.98, P < 0.05; neck and trunk, pre-op 6.29 ± 4.55, post-op 0.59 ± 0.87, P < 0.05; arms, pre-op 13.06 ± 5.86, post-op 5.76 ± 3.7, P < 0.05; and legs, pre-op 7.18 ± 5.12, post-op 1.29 ± 1.57, P < 0.05); and disability (pre-op 8 ± 3.46, post-op 4.24 ± 2.25; P < 0.05), suggesting high clinical significance. LEDD (pre-op 673.41 ± 212.69 mg, post-op 386.82 ± 133.01 mg; P = 0.000) showed significant reduction in dosage 6 months postoperatively. LEDD reduction and dyskinesia improvement showed mild-to-moderate positive correlation (r = 0.404). CONCLUSION: B/L STN DBS helps in improving dyskinesia by reducing LEDD in APD patients.

Abstract Objective: The prevalence of pediatric onset multiple sclerosis (POMS) is 0.69-26.92 per 100,000 individuals. Here we describe the clinical profile and follow-up of patients with POMS from India where the data are scarce. Materials and Methods: This is a retrospective observational study; the data were collected from the ongoing MS registry from 2007. The clinical and demographic profile was studied and therapy response was documented. Results: There were nine patients with POMS with a mean age of 16.8 years (13-19). The lag in the diagnosis ranged from 0 to 8 years (mean of 2.5 years). Six had relapsing remitting variant of MS (RRMS). Optic neuritis was the most common presentation (44%). Oligoclonal bands were positive in 5 (55%). Conclusion: Optic neuritis was the common symptom followed by ataxia due to brainstem or spinal cord involvement. The lag period was long and the impairment in academic performance and social functioning was a concern. Keywords: Lag period, optic neuritis, pediatric multiple sclerosis, Author(s): Sireesha Yareeda [1]; Jabeen S. Afshan [1]; Mathukumalli L. Neeharika [1]; Rukmini M. Kandadai [1]; Suryaprabha P. Turaga [1]; Rupam Borgohain [1] Background Pediatric multiple sclerosis (POMS) is MS [...]

Byline: Sai. Yaranagula, Manshi. Kashyap, Sruthi. Kola, Rukmini. Kandadai, Rajesh. Alugolu, Vanakuru. Prasad, Garima. Jasani, Rupam. Borgohain, Ravi. Varma Dear Editor, Intracerebral hemorrhage (ICH) after deep brain stimulation (DBS) surgery [...]

Abstract The benefits of large-scale genetic studies for healthcare of the populations studied are well documented, but these genetic studies have traditionally ignored people from some parts of the world, such as South Asia. Here we describe whole genome sequence (WGS) data from 4806 individuals recruited from the healthcare delivery systems of Pakistan, India and Bangladesh, combined with WGS from 927 individuals from isolated South Asian populations. We characterize population structure in South Asia and describe a genotyping array (SARGAM) and imputation reference panel that are optimized for South Asian genomes. We find evidence for high rates of reproductive isolation, endogamy and consanguinity that vary across the subcontinent and that lead to levels of rare homozygotes that reach 100 times that seen in outbred populations. Founder effects increase the power to associate functional variants with disease processes and make South Asia a uniquely powerful place for population-scale genetic studies.

High temperature solar thermal facilities are looking to increase operating temperatures through novel heat transfer media, one such being solid particles. These particles operating at high temperatures will require transferring their thermal energy into another working fluid like supercritical carbon dioxide which can be used in advanced power cycles. Achieving high heat transfer between the particles and supercritical carbon dioxide is essential to high efficiency and low-cost operation. Therefore, optimizing the thermal conductivity of these particles is one potential way to ensure high performance. Traditionally, unimodal particle distributions have been employed in high temperature particle solar power plants. However, ambient temperature testing of bimodal particle distributions has revealed a superior thermal conductivity when compared to its unimodal counterpart at the same temperature. This data was obtained by certified, off-the-shelf instruments that can effectively simulate the conditions a particle would be exposed to in a high temperature solar thermal system. Data obtained in this way suggests that the increased thermal conductively imputed by a bimodal particle distribution is significant at working temperatures in solar facilities. Furthermore, the thermal conductivity of these bimodal particle distributions peaks when the best combination of large and small particles is applied. At high temperatures, binary particle distributions are compared to monodispersed distributions of larger particles where heat transfer is more prolific due to the increased surface radiation. Various thermal conductivity, porosity and heat exchanger models are explored in conjunction with data acquired up to 700 C.

Aim: To assess the changes in frequency parameters of STN-DBS stimulation over 6 months required to optimize gait in PD patients. Methods: It's a single center, open label longitudinal study of PD patients after STN-DBS with gait disorders. Gait assessment using stand–walk–sit (SWS) test and freezing of gait (FOG) scores were done at baseline and after 6 months. Gait was assessed in five frequencies settings, that is, 60 Hz, 90 Hz, 130 Hz, 180 Hz and stimulation “OFF” during medication ON state. Voltage was maintained. Results: Fifteen post-deep brain stimulation (DBS) patients were included. Mean duration after surgery was 3.73 ± 2.82 years. In SWS and FOG at baseline, five patients have good response at 180 Hz frequency, five at 130 Hz, one at 90 Hz, two patients at 60 Hz, one both 60 and 90 Hz, and one at both 90 and 180 HZ. And after 6 months out of the 13 patients who were able to perform the test, four patients had good response at 180 Hz frequency, four at 130 Hz, two at 90 Hz, one each for 60 Hz and battery OFF state, and one for both 130 Hz and 180 Hz. At 6 months, four patients had good response at the same frequency as baseline, while 11 patients have change in frequency from baseline. Conclusion: Optimal frequency for gait varies in patients—both low and high frequency may be useful. Optimal frequency for improving gait changes over period of time. Regular assessment and changing frequency may improve gait after DBS.

AIM: To study the impact of trajectory parameters on Microelectrode recording during Subthalamic nucleus deep brain stimulation surgery in PD patients MATERIALS AND METHODS: This is a retrospective study. On the day of surgery MRI was taken with frame on which planning was done using stereocalc and navigation systems and final coordinates of X, Y, Z, mid sagittal angle, axial angles were obtained. During surgery Microelectrode recording (MER) was done and with bed side examination final lead placement decided. Impact of trajectory angles on MER was studied using appropriate statistical analysis. RESULTS: Among 40 patients studied,mean age of patients and duration of disease were 55.65years and 7.95 years. Mean UPDRS OFF and ON scores were 60.7 and 15.4 respectively and mean MOCA score was 26.6. Distribution of type of recording differs significantly across mid sagittal angles among 15o (P 75o for axial angle had highest percentage (60%) showing no recording when compared to others. Significantly higher proportion of cases with higher duration of PD had higher incidence of no recording and vice-versa (P 15o and an axial angle < 75o produced better MERs. Although not statistically significant, this could suggest approach angles may have a role to achieve good microelectrode recordings. Larger prospective studies may be helpful to understand this further.

Background: Movement abnormalities pertaining to balance, posture, and gait are observed in Parkinson's disease patients. Gait characteristics vary widely and their analysis has been performed traditionally in gait labs. Freezing and festination usually occur at an advanced stage of the disease and are associated with reduced quality of life. Therapeutic strategies and surgical interventions are often modulated by the physician depending upon the clinical manifestations. Introduction of accelerometers and wireless data transmission systems made quantitative gait analysis possible and cost-effective. Objective: To assess spatiotemporal gait parameters (step height, length (spatial), and swing support time of each foot and double support time (temporal)) in subjects who underwent deep brain stimulation surgery using a purpose-built instrument—Mobishoe. Methods: A simple footwear-based gait sensing device—Mobishoe was built in-house. Thirty-six participants were included in the study after obtaining consent. Participants were made to wear Mobishoe and walk an empty corridor of 30m before Deep Brain Stimulation (DBS) in the drug on and off stated and post DBS in DBS stimulation on and medication off state (B1M0), DBS stimulation off—medication off state (B0M0), DBS stimulation off—medication on (B0M1), and DBS stimulation on and on medication (B1M1). Data was electronically captured and analyzed offline in MATrix LABoratory (MATLAB). Various gait parameters were extracted and analyzed. Results: Improvement in gait parameters was observed when the subject was on medication, on stimulation, or on both when compared to baseline. Improvement was similar with both medication and stimulation and was synergistic when both were used. Significant improvement was noted in spatial characteristics when the subjects were on both the treatments, which is the ideal treatment modality. Conclusion: Mobishoe is an affordable device which can measure spatiotemporal characteristics of gait. The best improvement was seen when the subjects were on both the treatment groups and the improvement can be justified as a synergistic effect of stimulation and medication.

Byline: Sai. Yaranagula, Neeharika. Mathukumalli, Sruthi. Kola, Rukmini. Kandadai, Vanakuru. Prasad, Rajesh. Alugolu, Rupam. Borgohain To report a patient with concomitant aceruloplasminemia (with a novel mutation) and IgG4-related pachymeningitis and [...]

Dystonia deafness syndrome (DDS) is a rare syndrome characterized by childhood onset sensorineural deafness followed by adult-onset dystonia. We here report the first case of DDS from India caused by ACTB gene mutation presented with deafness, generalized dystonia and scoliosis who showed improvement after Deep brain stimulation.

To report a patient with concomitant aceruloplasminemia (with a novel mutation) and IgG4-related pachymeningitis and to hypothesize on the possible relation between the two diseases. Clinical, radiological, and laboratory features of a 56-year-old lady with chronic headache, bifacial palsy, and cerebellar signs are described. Pathophysiology of aceruloplasminemia leading to hyperferritinemia and consequent immune activation is elucidated. A coherent explanation of IgG4-related pachymeningitis resulting from aceruloplasminemia and hyperferritinemia is given. The patient has aceruloplasminemia with a novel nonsense mutation. She also suffers from biopsy-proven IgG4 related pachymeningitis as per standard criteria. These two seemingly unrelated illnesses are linked by hyperferritinemia. This case is a fine example of Occam's razor. Immune dysfunction and autoimmune disorders in aceruloplasminemia need to be explored through further studies to look for causal associations.

The BRAF V600E mutation and BRAF inhibitor responsiveness characterize ∼50% of patients with the non-Langerhans cell histiocytosis (non-LCH) Erdheim-Chester disease (ECD). We interrogated the non-LCH molecular landscape [ECD, n = 35; Rosai-Dorfman disease (RDD), n = 3; mixed ECD/RDD, n = 1] using BRAF V600E PCR and/or next-generation sequencing [tissue and cell-free DNA (cfDNA) of plasma and/or urine]. Of 34 evaluable patients, 17 (50%) had the BRAF V600E mutation. Of 31 patients evaluable for non-BRAF V600E alterations, 18 (58%) had ≥1 alteration and 12 putative non-BRAF V600E MAPK pathway alterations: atypical BRAF mutation; GNAS, MAP2K1, MAP2K2, NF1, and RAS mutations; RAF1 or ERBB2 amplifications; LMNA-NTRK1 (TRK inhibitor-sensitive) and CAPZA2-BRAF fusions. Four patients had JAK2, MPL ASXL1, U2AF1 alterations, which can correlate with myeloid neoplasms, a known ECD predisposition, and one developed myelofibrosis 13 months after cfDNA testing. Therefore, our multimodal comprehensive genomics reveals clinically relevant alterations and suggests that MAPK activation is a hallmark of non-LCH.

We have recently published the notion of the “vitals” of Parkinson’s, a conglomeration of signs and symptoms, largely nonmotor, that must not be missed and yet often not considered in neurological consultations, with considerable societal and personal detrimental consequences. This “dashboard,” termed the Chaudhuri’s vitals of Parkinson’s, are summarized as 5 key vital symptoms or signs and comprise of (a) motor, (b) nonmotor, (c) visual, gut, and oral health, (d) bone health and falls, and finally (e) comorbidities, comedication, and dopamine agonist side effects, such as impulse control disorders. Additionally, not addressing the vitals also may reflect inadequate management strategies, leading to worsening quality of life and diminished wellness, a new concept for people with Parkinson’s. In this paper, we discuss possible, simple to use, and clinically relevant tests that can be used to monitor the status of these vitals, so that these can be incorporated into clinical practice. We also use the term Parkinson’s syndrome to describe Parkinson’s disease, as the term “disease” is now abandoned in many countries, such as the U.K., reflecting the heterogeneity of Parkinson’s, which is now considered by many as a syndrome.

After the M7.7 earthquake in 2001, the Kachchh rift basin became the focus of various geological and geophysical researches on the western Indian plate. As an essential technology, the Global Navigation Satellite System (GNSS) has been utilized to study the deformation pattern in the central mainland Kachchh. We select the east-west striking Katrol Hill Fault (KHF) as the study area and analyze the crustal deformation pattern using the datasets from 2014 to 2019. The geodetic results along the KHF reveal a mean deformation of about 2.1 mm per year, which is higher in the eastern part and lower in the central and western parts. The investigation of deformation and derived strain reveals the segmented behavior of KHF, while the dominance of compressive strain (maximum 22 nanostrain/yr) in the eastern segment makes it the most active segment of the KHF. A higher deformation rate along the eastern KHF can be considered significant in terms of seismic hazard for this part of the Indian plate.