Publications by authors named "Vinay Goyal"

165 Publications

Diagonistic Dyspraxia and Apraxia in NMDA Encephalitis: A Rare Etiology.

Mov Disord Clin Pract 2021 Apr 25;8(3):474-475. Epub 2021 Mar 25.

Department of Neurology All India Institute of Medical Sciences New Delhi India.

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http://dx.doi.org/10.1002/mdc3.13164DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8015917PMC
April 2021

Cognitive impairment in spinocerebellar ataxia type 12.

Parkinsonism Relat Disord 2021 Mar 13;85:52-56. Epub 2021 Mar 13.

Department of Neurology, All India Institute of Medical Sciences, New Delhi, India. Electronic address:

Introduction: Cognitive impairment has now been recognised to be present in patients with several of spinocerebellar ataxias (SCAs). Cognitive impairment in patients with spinocerebellar ataxia type 12 has not been evaluated.

Objective: To evaluate the cognitive impairment in patients diagnosed with spinocerebellar ataxia type 12 (SCA12).

Methods: We conducted a cross sectional study and enrolled 30 (20 male and 10 female) genetically confirmed SCA12 patients and 30 healthy, age, gender and education matched individuals as controls. Cognitive domains were tested using a battery of validated neurocognitive tests.

Result: Mean age of patients was 51.6 ± 8.0 years and mean disease duration was 5.3 ± 3.0 years. Mean International Cooperative Ataxia Rating Scale (ICARS) score was 29.8 ± 12.5. SCA 12 patients scored significantly lower than controls in executive function and new learning ability. Other tested cognitive domains were also affected but did not reach statistical significance. Age, age at onset, severity of ataxia, disease duration and CAG repeat length did not correlate with cognitive impairment.

Conclusion: Cognitive impairment is a part of the spectrum of SCA12 and is characterized by dysfunction in executive function and new learning ability even early in the course of disease.
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http://dx.doi.org/10.1016/j.parkreldis.2021.03.010DOI Listing
March 2021

The Role of Repetitive Transcranial Magnetic Stimulation for Enhancing the Quality of Life in Parkinson's Disease: A Systematic Review.

Ann Indian Acad Neurol 2020 Nov-Dec;23(6):755-759. Epub 2020 May 21.

Department of Neurology, Neurosciences Centre, All India Institute of Medical Sciences (AIIMS), New Delhi, India.

Background: Parkinson's disease (PD) is a neurodegenerative disorder which greatly affects patients' quality of life. Despite an exponential increase in PD cases, not much attention has been paid to enhancing their quality of life (QoL). Thus, this systematic review aims to summarize the available literature for the role of repetitive transcranial magnetic stimulation (rTMS) intervention to improve QoL of PD patients.

Methods: Literature review was carried out using PubMed, Embase, Web of Science and Scopus databases. The key search words were, "", "". Cochrane Collaboration software 5.3 was used to assess the quality of studies.

Results: Over 707 studies were identified out of which 5 studies were included which consisted of 160 subjects, 89 male and 71 female, with mean age of 65.04 years. PD type varied from idiopathic PD, rigid, akinetic, tremor dominant to mixed type. The overall risk of bias across the studies was low and unclear with high risk of bias in domain in one study.

Conclusions: The efficacy of rTMS as an adjunct intervention to enhance QoL of PD patients is uncertain due to dire lack of research in this area. The findings of the present review would help researchers conduct a well-defined, randomized, controlled trial by overcoming the present limitations associated with rTMS intervention to improve QoL of PD patients.
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http://dx.doi.org/10.4103/aian.AIAN_70_20DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7900726PMC
May 2020

Clinical Study of 668 Indian Subjects with Juvenile, Young, and Early Onset Parkinson's Disease.

Can J Neurol Sci 2021 Mar 9:1-9. Epub 2021 Mar 9.

MedGenome Labs Pvt Ltd, Bangalore, Karnataka, India.

Objective: To determine the demographic pattern of juvenile-onset parkinsonism (JP, <20 years), young-onset (YOPD, 20-40 years), and early onset (EOPD, 40-50 years) Parkinson's disease (PD) in India.

Materials And Methods: We conducted a 2-year, pan-India, multicenter collaborative study to analyze clinical patterns of JP, YOPD, and EOPD. All patients under follow-up of movement disorders specialists and meeting United Kingdom (UK) Brain Bank criteria for PD were included.

Results: A total of 668 subjects (M:F 455:213) were recruited with a mean age at onset of 38.7 ± 8.1 years. The mean duration of symptoms at the time of study was 8 ± 6 years. Fifteen percent had a family history of PD and 13% had consanguinity. JP had the highest consanguinity rate (53%). YOPD and JP cases had a higher prevalence of consanguinity, dystonia, and gait and balance issues compared to those with EOPD. In relation to nonmotor symptoms, panic attacks and depression were more common in YOPD and sleep-related issues more common in EOPD subjects. Overall, dyskinesias were documented in 32.8%. YOPD subjects had a higher frequency of dyskinesia than EOPD subjects (39.9% vs. 25.5%), but they were first noted later in the disease course (5.7 vs. 4.4 years).

Conclusion: This large cohort shows differing clinical patterns in JP, YOPD, and EOPD cases. We propose that cutoffs of <20, <40, and <50 years should preferably be used to define JP, YOPD, and EOPD.
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http://dx.doi.org/10.1017/cjn.2021.40DOI Listing
March 2021

Steroid Responsive Acute Isolated Ophthalmoplegia: A Rare Presentation of Anti-Gq1b Antibodies Syndrome.

Ann Indian Acad Neurol 2020 Sep-Oct;23(5):739-740. Epub 2020 Dec 8.

Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.

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http://dx.doi.org/10.4103/aian.AIAN_287_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7887498PMC
December 2020

Clinodactyly - A Clinical Clue to Diagnose a Hereditary Periodic Paralysis.

Ann Indian Acad Neurol 2020 Sep-Oct;23(5):738-739. Epub 2020 Oct 7.

Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.

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http://dx.doi.org/10.4103/aian.AIAN_400_20DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7887508PMC
October 2020

Botulinum toxin to treat phantom limb pain.

Toxicon 2021 May 19;195:17-19. Epub 2021 Feb 19.

Director Neurology, Institute of Neurosciences, Medanta The Medicity, NCR, India. Electronic address:

None.
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http://dx.doi.org/10.1016/j.toxicon.2021.02.010DOI Listing
May 2021

Odontogenic sinusitis publication trends from 1990 to 2019: a systematic review.

Eur Arch Otorhinolaryngol 2021 Feb 20. Epub 2021 Feb 20.

Department of Otolaryngology, Henry Ford Hospital, Detroit, MI, 48202, USA.

Purpose: Odontogenic sinusitis (ODS) is underrepresented in the literature compared to other forms of rhinosinusitis, specifically in sinusitis guidelines and position statements. ODS publication characteristics could help explain why ODS has received less attention in sinusitis guidelines and position statements. The purpose of this study was to explore trends in the quantity and quality of ODS studies over 3 decades from 1990 to 2019.

Methods: A systematic review was performed to identify all ODS studies from 1990 to 2019. The following variables from all ODS studies were compared between and across the 3 decades: authors' specialties, journal specialties, authors' geographic origins (continents), study topics, study designs, and evidence levels.

Results: From 1990 to 2019, there were 254 ODS studies that met inclusion criteria. Numbers of publications increased each decade, with 161 being published from 2010 to 2019. Otolaryngologists and dental authors published over 75% of ODS studies each decade, with 60-75% of ODS articles being published in otolaryngology or dental journals. European and Asian authors published the most ODS studies each decade. Overall, 92-100% of ODS publications per decade were level 4 and 5 evidence, with no significant changes between or across decades.

Conclusion: While numbers of ODS publications increased each decade from 1990 to 2019, evidence levels remained low without significant changes over time. Otolaryngologists and dental authors published the majority of ODS studies each decade, with a minority of these studies being multidisciplinary. More ODS studies are needed across all aspects of the condition, and future projects would benefit from improved study designs and multidisciplinary collaboration.
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http://dx.doi.org/10.1007/s00405-021-06688-7DOI Listing
February 2021

Assessment of myocardial sympathetic innervation with 18F-FDOPA-PET/CT in patients with autonomic dysfunction: feasibility study in IPD patients.

J Nucl Cardiol 2021 Jan 10. Epub 2021 Jan 10.

Department of Neurology, AIIMS, New Delhi, India.

Background: Dysfunction and denervation of myocardial nor-adrenergic sympathetic neurons has been documented in IPD patients with dysautonomia. The aim of this study was to evaluate the feasibility of single tracer imaging of myocardial sympathetic and cerebral striatal involvement in these patients.

Methods: Twenty-two controls (mean-age 59.09 ± 12.39 years, 15 men) with no clinical autonomic-dysfunction and normal striatal-uptake in 18F-FDOPA-PET/CT; and 28 patients (mean-age 58.18 ± 8.25 years, 18 men) with autonomic-dysfunction (in Autonomic Function Tests) and striatal dopaminergic-dysfunction were enrolled. Both cardiac-PET/CT (40 minutes post IV-injection of 185-259MBq 18F-FDOPA) and Brain-PET/CT (60 minutes post-IV) were acquired in same session. ROIs were drawn over the entire left ventricular myocardium, individual walls and mediastinum for quantification. Patients and controls were followed-up for 26.93 ± 5.43 months and 37.91 ± 8.63 months, respectively.

Results: Striatal and myocardial-parameters were significantly lower in patients compared to controls; with Myocardium/mediastinal ratio (MwMR) yielding the area-under-the-curve of .941 (P < .001). MwMR correlated negatively with the drop in systolic blood pressure (SBP) during AFTs {Pearson-coefficient (-).565, P = .002}. Mean MwMR in patients with abnormal-AFTs was significantly lower than patients with borderline-AFTs (1.39 ± .12 vs 1.55 ± .10; P = .002). 9/20 patients with abnormal-AFTs showed functional worsening during follow-up, compared to 2/8 with borderline-AFTs.

Conclusion: Single tracer, single session imaging of striatal and cardiac sympathetic dysfunction in patients with advanced IPD is feasible with use of 18F-FDOPA. Significantly reduced 18F-FDOPA uptake is seen in the myocardium of the IPD patients with sympathetic dysfunction.
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http://dx.doi.org/10.1007/s12350-020-02474-wDOI Listing
January 2021

Assessment of Botulinum Neurotoxin Injection for Dystonic Hand Tremor: A Randomized Clinical Trial.

JAMA Neurol 2021 Mar;78(3):302-311

Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.

Importance: There is an unmet need for safe and efficacious treatments for upper-extremity dystonic tremor (DT). To date, only uncontrolled retrospective case series have reported the effect of botulinum neurotoxin (BoNT) injections on upper-extremity DT.

Objective: To assess the effect of BoNT injections on tremor in patients with upper-extremity DT.

Design, Setting, And Participants: In this placebo-controlled, parallel-group randomized clinical trial, 30 adult patients with upper-extremity DT treated at a movement disorder clinic in a tertiary care university hospital were randomized in a 1:1 ratio to BoNT or saline injection, 0.9%, using a computer-generated randomization sequence. Randomization was masked using opaque envelopes. The participant, injector, outcome assessor, and statistician were blinded to the randomization. Participants were recruited between November 20, 2018, and December 12, 2019, and the last follow-up was completed in March 2020.

Interventions: Participants received electromyographically guided intramuscular injections of BoNT or placebo into the tremulous muscles of the upper extremity. Injection patterns and doses were individualized according to tremor phenomenologic findings.

Main Outcomes And Measures: The primary outcome was the total score on the Fahn-Tolosa-Marin Tremor Rating Scale 6 weeks after the intervention. Outcomes were assessed at baseline, 6 weeks, and 12 weeks. All patients were offered open-label BoNT injections after 12 weeks and reassessed 6 weeks later.

Results: A total of 48 adult patients with a diagnosis of brachial dystonia with DT were screened. Fifteen were ineligible and 3 refused consent; therefore, 30 patients (mean [SD] age, 46.0 [18.6] years; 26 [86.7%] male) were recruited, with 15 randomized to receive BoNT and 15 to receive placebo. In the intention-to-treat group, the Fahn-Tolosa-Marin Tremor Rating Scale total score was significantly lower in the BoNT group at 6 weeks (adjusted mean difference, -10.9; 95% CI, -15.4 to -6.5; P < .001) and 12 weeks (adjusted mean difference, -5.7; 95% CI, -11.0 to -0.5; P = .03). More participants in the BoNT group reported global improvement on the Global Impression of Change (PGIC) assessment (PGIC 1, 2, and 3: BoNT: 4 [26.7%], 6 [40.0%], and 5 [33.3%]; placebo: 5 [33.3%], 10 [66.7%], and 0, respectively; P = .047). Subjective hand weakness (BoNT: 6 [40.0%]; placebo: 4 [28.6%], P = .52) and dynamometer-assessed grip strength (mean difference, -0.2 log10[kgf/m2]2/Hz-Hz; 95% CI, -0.9 to 0.4 log10[kgf/m2]2/Hz-Hz; P = .45) were similar in both groups.

Conclusions And Relevance: In this randomized clinical trial, botulinum neurotoxin injections were superior to placebo in reducing tremor severity in upper-extremity DT. An individualized approach to muscle selection and dosing was beneficial without unacceptable adverse effects.

Trial Registration: Clinical Trials Registry of India (http://ctri.nic.in) Identifier: CTRI/2018/02/011721.
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http://dx.doi.org/10.1001/jamaneurol.2020.4766DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7754081PMC
March 2021

Effect of Disease Severity on Respiratory Impedance in Parkinson's Disease.

Ann Neurosci 2020 Apr 9;27(2):63-66. Epub 2020 Nov 9.

Department of Physiology, All India Institute of Medical Sciences, New Delhi, India.

Background: Parkinson's disease (PD) is a progressive neurodegenerative disorder. PD has been traditionally perceived as a motor disorder. However, it is frequently associated with pulmonary dysfunction which has been assessed by Spirometry, an effort-dependent technique.

Purpose: To evaluate in patients with PD the effect of disease severity on respiratory impedance using Impulse Oscillometry (IOS) and to correlate with Spirometry.

Methods: The study was conducted on 30 patients diagnosed with PD. Pulmonary function was assessed by IOS and spirometer. IOS is an effort-independent technique that uses sound waves of different frequencies to measure airway resistance. Spirometer measures the lung volume and generates flow-volume and volume-time relationship.

Results: The mean age of patients was 60.1±9.45. Resistance at 5 Hz (R5) was found to be negatively correlated with forced expiratory volume in the first second of the FVC manoeuver (FEV) ( = -0.628, = .002), FEV/FVC (forced vital capacity) ( = -0.487, = .025), and PEF ( = -0.599, = .004), and resistance at 20 Hz (R20) with FEV ( = -0.474, = .029) and PEF ( = -0.522, = .015). There was significant increase in R5 (0.32(0.36-0.28) vs 0.47(0.60-0.36); = .04) and R20 (0.25(0.28-0.20) vs 0.30(0.40-0.25); = .04) in stage II as compared to stage I of Hoehn-Yahr scale.

Conclusion: IOS might be a promising tool for diagnosis of respiratory dysfunction in addition to Spirometry, especially in cases where patients are not able to perform forced manoeuvers.
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http://dx.doi.org/10.1177/0972753120960265DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7724431PMC
April 2020

Impact of home confinement during COVID-19 pandemic on sleep parameters in Parkinson's disease.

Sleep Med 2021 01 23;77:15-22. Epub 2020 Nov 23.

Dept. of Neurology, Medanta Hospital, Gurugram, India.

Background: Literature shows that home confinement during coronavirus disease 2019 (COVID-19) pandemic has significantly affected sleep. However, such information regarding subjects having Parkinson's disease (PD) is unavailable.

Methods: This cross-sectional study was conducted using a questionnaire, developed and validated by experts. PD subjects from nine centers across India were included. Questionnaire assessed presence as well as change in sleep-related parameters and PD symptoms during home confinement. Restless legs syndrome (RLS) and REM sleep behavior disorder (REMBD) was diagnosed using validated questionnaire. Additionally, changes in physical activity, adoption of new hobbies during home confinement and perceived quality of life were assessed.

Results: Of 832 subjects, 35.4% reported sleep disturbances. New-onset/worsening of sleep disturbances (NOWS) was reported by 23.9% subjects. Among those with sleep disturbances (n = 295), insomnia symptoms worsened in half (51.5%) and nearly one-fourth reported worsening of RLS (24.7%) and REMBD (22.7%) each. NOWS was common in subjects lacking adequate family support during home confinement (P = 0.03); home confinement > 60 days (P = 0.05) and duration of PD > 7 years (P = 0.008). Contrarily, physical activity >1 h/day and engagement in new hobbies during home confinement were associated with better sleep. NOWS was associated with worsening of motor as well as non-motor symptoms of PD (P < 0.001) and poorer life quality (P < 0.001).

Conclusion: Home confinement during COVID-19 pandemic was significantly associated with NOWS among PD subjects. NOWS was associated with global worsening of PD symptoms and poorer life quality. Physical activity >1 h/day and adoption of new hobbies during home confinement were associated with better sleep.
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http://dx.doi.org/10.1016/j.sleep.2020.11.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7682933PMC
January 2021

Botulinum neurotoxin in the treatment of hemifacial spasm associated with myasthenia gravis.

Toxicon 2021 Jan 27;190:1-2. Epub 2020 Nov 27.

Institute of Neurosciences, Medanta The Medicity, NCR, India. Electronic address:

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http://dx.doi.org/10.1016/j.toxicon.2020.11.011DOI Listing
January 2021

CADASIL and Cavernomas: A Common Mechanism.

Ann Indian Acad Neurol 2020 Jul-Aug;23(4):570-572. Epub 2020 Jul 16.

Department of Neurology, Neurosciences Center, All India Institute of Medical Sciences, New Delhi, India.

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http://dx.doi.org/10.4103/aian.AIAN_684_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7657275PMC
July 2020

Spinal Tuberculosis Treatment: An Enduring Bone of Contention.

Ann Indian Acad Neurol 2020 Jul-Aug;23(4):441-448. Epub 2020 Jul 16.

Department of Neurology, Institute of Neurosciences, Medanta, Gurugram, Haryana, India.

Spinal tuberculosis is the most common form of extrapulmonary tuberculosis. It is of great importance to neurologists because of the potentially devastating complication of paraplegia, which may set in during active disease or the healed phase. Due to the deep-seated nature of the disease, definitive diagnosis is often challenging. There is no clear consensus on the appropriate duration of therapy for spinal tuberculosis, with various guidelines recommending treatment from as short as 6 months to up to 18 months. In this article, we present a critical appraisal of the evidence on the same. In our opinion, the duration of antitubercular therapy needs to be individualized and the decision to terminate therapy should be multifactorial (clinical, radiological, pathological/microbiological where possible) rather than being enmeshed within any particular guideline.
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http://dx.doi.org/10.4103/aian.AIAN_141_20DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7657285PMC
July 2020

Surgical and Neurological Outcome of Minimally Invasive Thymectomy in Patients With Myasthenia Gravis: An Experience of 100 Cases Over 6 Years at a Tertiary Care Center in North India.

Surg Laparosc Endosc Percutan Tech 2020 Oct 28;31(2):227-233. Epub 2020 Oct 28.

Pathology, All India Institute of Medical Sciences (AIIMS), New Delhi, Delhi, India.

Background: Minimally invasive thymectomy (MIT) is emerging as an effective alternative to open thymectomy in the management of patients with myasthenia gravis (MG). The primary objective of our study is to assess the surgical and neurological outcome of MIT in patients with MG.

Materials And Methods: It is a retrospective evaluation of prospectively collected data of 100 patients with MG, who underwent MIT from April 2012 to January 2018 at a tertiary care center in India. Surgical outcome was assessed for success of minimal invasive approach, conversion, perioperative morbidity, and postoperative hospital course. Neurological outcome was assessed, after at least 1 year of follow-up, according to Myasthenia Gravis Foundation of America postintervention status. Factors predicting complete stable remission (CSR) were evaluated.

Results: MIT was successfully performed in 98% patients with 2% conversion. There was no mortality. Overall, 10% of patients had perioperative morbidity with 5% having exacerbation of neurological symptoms. Two of these needed postoperative ventilation, whereas 3 recovered on conservative treatment. Median operative time and hospital stay were 140 minutes and 3 days, respectively. At a median follow-up of 47 months, CSR was seen in 20% with improvement in 73.3%. Overall, 63% patients were taken off steroids and patients requiring 3 drugs decreased by 70.7%. There was significant reduction in the dosage of pyridostigmine (P<0.001), prednisolone (P<0.001), and azathioprine (P=0.002) after thymectomy. Milder disease (Myasthenia Gravis Foundation of America class 1 and 2) predicted CSR on multivariate analysis.

Conclusions: MIT is a safe and effective procedure that leads to improvement in neurological status with significant reduction in number and dosage of medications after thymectomy. Mild disease predicts CSR.
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http://dx.doi.org/10.1097/SLE.0000000000000880DOI Listing
October 2020

Brainstem tuberculoma: A delayed IRIS.

Indian J Tuberc 2020 Jul 3;67(3):343-345. Epub 2018 Dec 3.

Department of Neurology, All India Institute of Medical Sciences, New Delhi, India. 110029. Electronic address:

We describe a twenty six years old lady with tuberculous meningitis who developed new onset left ptosis and binocular diplopia with features of left fascicular 3rd nerve palsy after 9 months of anti tubercular therapy (ATT) and imaging revealed new onset tuberculoma in the mid-brain. Tuberculoma responded to steroids while continuing ATT. Formation of new tuberculoma as a part of immune reconstitution inflammatory syndrome (IRIS) is possible even after prolonged therapy of 9 months, which responded well to only steroids without altering ATT.
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http://dx.doi.org/10.1016/j.ijtb.2018.11.001DOI Listing
July 2020

Identification of potential urine biomarkers in idiopathic parkinson's disease using NMR.

Clin Chim Acta 2020 Nov 10;510:442-449. Epub 2020 Aug 10.

NMR and MRI Facility, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India; Professor of Eminence of Radiology, Chettinad Academy of Research & Education, Kelambakkam, TN 603103, India.

Introduction: Parkinson's disease (PD) is the most common neurodegenerative disease caused by the loss of dopamine chemicals resulting in urinary incontinence, gastrointestinal dysfunction, gait impairment and mitochondrial dysfunction. Study investigated urinary metabolic profiles of patients with idiopathic PD as compared to healthy controls (HC) to identify the potential biomarkers.

Methods: Urine samples were collected from 100 PD subjects and 50 HC using standard protocol. Metabolomic analyses were performed using high resolution nuclear magnetic resonance (NMR) spectroscopy. The integral values of 17 significant metabolites were estimated and concentration values were calculated, which were subjected to univariate and multivariate statistical analysis.

Results: We found significantly increased levels of ornithine, phenylalanine, isoleucine, β-hydroxybutyrate, tyrosine and succinate in the urine of patients with PD in comparison with HC. These metabolites exhibited area under the curve greater than 0.60 on ROC curve analysis. We also observed a significant association between succinate concentration and UPDRS motor scores of PD.

Discussion: Metabolic pathway alterations were observed in aromatic amino acid metabolism, ketone bodies synthesis, branched chain amino acid metabolism and ornithine metabolism. Comprehensive metabolomic profiling revealed variations in urinary signatures associated with severity of idiopathic PD. This profiling relies on non-invasive sampling and is complementary to existing clinical modalities.
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http://dx.doi.org/10.1016/j.cca.2020.08.005DOI Listing
November 2020

Neonatal Lateral Epiglottic Defects.

Ann Otol Rhinol Laryngol 2021 Mar 8;130(3):311-313. Epub 2020 Aug 8.

Department of Otolaryngology, Head and Neck Surgery, University of Iowa, Iowa City, IA, USA.

Introduction: Multiple congenital abnormalities of the epiglottis have been reported and iatrogenic injuries to the larynx and subglottis are well known. We present a new pattern of defect not previously reported in the literature.

Methods: Epiglottic abnormalities at two institutions are reviewed. Cases of defects involving the lateral aspect of the epiglottis and aryepiglottic fold are identified. A literature review of known epiglottic defects is performed.

Results: Two children possessing lateral notch injuries at the aryepiglottic attachment to the epiglottis are described. Both children have a history of multiple laryngeal instrumentation attempts and prolonged intubation. Both have swallowing difficulties and are gastrostomy dependent. Congenital epiglottic defects include aplasia and midline bifidity, however, no lateral congenital epiglottic defects have been reported.

Conclusion: Epiglottic defects, while rare, should be part of the differential for children with aspiration and feeding difficulties. A new pattern of defect is described and iatrogenic etiology proposed.
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http://dx.doi.org/10.1177/0003489420948546DOI Listing
March 2021

Frontal lobe metabolic alterations characterizing Parkinson's disease cognitive impairment.

Neurol Sci 2021 Mar 29;42(3):1053-1064. Epub 2020 Jul 29.

Department of NMR & MRI Facility, All India Institute of Medical Sciences, New Delhi, 110029, India.

Background And Purpose: Diagnosis of Parkinson's disease (PD) cognitive impairment at early stages is challenging compared to the stage of PD dementia where functional impairment is apparent and easily diagnosed. Hence, to evaluate potential early stage cognitive biomarkers, we assessed frontal lobe metabolic alterations using in vivo multi-voxel proton magnetic resonance spectroscopic imaging (H-MRSI).

Method: Frontal metabolism was studied in patients with PD with normal cognition (PD-CN) (n = 26), with cognitive impairment (PD-CI) (n = 27), and healthy controls (HC) (n = 30) using a single slice (two-dimensional) H-MRSI at 3 T. The acquired spectra were post-processed distinctly for voxels corresponding to the bilateral middle/superior frontal gray matter (GM) and frontal white matter (WM) regions (delineated employing neuromorphometrics atlas) using the LC-Model software.

Result: Significant (post hoc p < 0.016) reduction in the concentration of N-acetyl aspartate (NAA) in the middle and superior frontal GMs and total choline (tCho) and total creatine (tCr) in the frontal WM was observed in PD-CI compared to PD-CN and HC, while that in HC and PD-CN groups were comparable. The NAA and tCr/tCho metabolite concentrations showed significant (p < 0.05) positive correlations with cognitive test scores in the frontal GM and WM, respectively. The receiver operating curve (ROC) analysis revealed significant (p < 0.05) "area under curve" for NAA/tNAA in the frontal GM and tCho in the frontal WM.

Conclusion: The frontal metabolic profile is altered in cognitively impaired PD compared with cognitively normal PD. Neuronal function loss (NAA), altered energy metabolism (Cr), and cholinergic (Cho) neural transmission are implicated in PD cognitive pathology. Frontal neuro-metabolism may promisingly serve as PD cognitive biomarker.
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http://dx.doi.org/10.1007/s10072-020-04626-9DOI Listing
March 2021

Investigations of Huntington's Disease and Huntington's Disease-Like Syndromes in Indian Choreatic Patients.

J Huntingtons Dis 2020 ;9(3):283-289

Genomics and Molecular Medicine, CSIR - Institute of Genomics and Integrative Biology, Delhi, India.

Background: The diagnostic workup for choreiform movement disorders including Huntington's disease (HD) and those mimicking HD like phenotype is complex.

Objective: The aim of the present study was to genetically define HD and HD-like presentations in an Indian cohort. We also describe HTT-CAG expansion manifesting as neuroferritinopathy-like disorder in four families from Punjab in India.

Materials And Methods: 159 patients clinically diagnosed as HD and HD-like presentations from various tertiary neurology clinics were referred to our centre (CSIR-IGIB) for genetic investigations. As a first tier test, CAG-TNR for HTT was performed and subsequently HD-negative samples were screened for JPH3 (HDL2), TBP (SCA17), ATN1 (DRPLA), PPP2R2B (SCA12) and GGGGCC expansion in C9orf72 gene. Four families presenting as neuroferritinopathy-like disorder were also investigated for HTT-CAG expansion.

Results: 94 of 159 (59%) patients were found to have expanded HTT-CAG repeats. Pathogenic repeat expansion in JPH3, TBP, ATN1 and C9orf72 were not found in HD negative cases. Two patients were positive for SCA12-CAG expansion in pathogenic length, whereas 5 cases harboured TBP-CAG repeats falling in reduced penetrance range of 41- 48 repeats for SCA17. Four unrelated families, presented with atypical chorea and brain MRI findings suggestive of basal ganglia abnormalities mimicking neuroferritinopathy were found to harbour HTT-CAG expansion.

Conclusion: We present SCA12 as a new reported phenocopy of HD which should be considered for diagnostic workout along with SCA17 for HD-like syndromes. This study also illustrates the necessity, to consider evolving HD like phenotype, as a clinical diagnosis for cases with initial manifestations depicting neuroferritinopathy.
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http://dx.doi.org/10.3233/JHD-200398DOI Listing
January 2020

Psychiatric co-morbidities and factors associated with psychogenic non-epileptic seizures: a case-control study.

Seizure 2020 Oct 22;81:325-331. Epub 2020 May 22.

Department of Neurology, All India Institute of Medical Sciences, New Delhi, India. Electronic address:

Purpose: Psychogenic non-epileptic seizures (PNES) offer an immense diagnostic and therapeutic challenge. We sought to determine socioeconomic, psychological and demographic factors in PNES compared to age and gender matched epilepsy patients as well as healthy controls. We also examined psychiatric co-morbidities in PNES and epilepsy patients.

Methods: We conducted a case-control study at a tertiary centre in India with three groups including PNES only, age and gender matched epilepsy only and healthy participants. Factors including marital status, family type, education level and psychiatric comorbidities etc. were compared between the three groups. Details of PNES semiology, duration of event and disease were collected. Psychiatric assessment included MINI International Diagnostic Interview based on DSM-IV criteria and Holmes-Rahe Social Readjustment Scale for stress evaluation. The modified Kuppuswamy scale was used to assess socio-economic status.

Results: We enrolled 100 PNES patients (mean age 26.1 ± 10.8 years), 100 epilepsy patients (23.5 ± 9.6 years) and 100 healthy controls (28.9 ± 11.0 years). Ninety per cent of participants were female. Significant factors associated with PNES included family history of epilepsy [OR 20.3 (2.6-155.6) (p = 0.004)], low education including literate/illiterate status [OR 14.1 (2.5-78.9) (p = 0.003)], interpersonal conflict [OR 2.4 (1.1-6.0) (p = 0.05)] and presence of psychiatric comorbidity [OR 60.5 (24.1-152.2) (p < 0.001)] of which major depression was the most common. The current suicide risk was significantly elevated in PNES compared to epilepsy patients (p < 0.001). PNES disease duration correlated with presence of current depression, dysthymia and suicidality but not with other psychiatric comorbidities.

Conclusions: Our results highlight that several socio-economic and demographic factors are associated with occurrence of PNES. High rates of psychiatric comorbidities including current suicide risk emphasise the need for a collaborative neuropsychiatric approach.
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http://dx.doi.org/10.1016/j.seizure.2020.05.007DOI Listing
October 2020

Genetic Architecture of Parkinson's Disease in the Indian Population: Harnessing Genetic Diversity to Address Critical Gaps in Parkinson's Disease Research.

Front Neurol 2020 18;11:524. Epub 2020 Jun 18.

Department of Neurology, G. B. Pant Institute of Medical Education and Research, New Delhi, India.

Over the past two decades, our understanding of Parkinson's disease (PD) has been gleaned from the discoveries made in familial and/or sporadic forms of PD in the Caucasian population. The transferability and the clinical utility of genetic discoveries to other ethnically diverse populations are unknown. The Indian population has been under-represented in PD research. The Genetic Architecture of PD in India (GAP-India) project aims to develop one of the largest clinical/genomic bio-bank for PD in India. Specifically, GAP-India project aims to: (1) develop a pan-Indian deeply phenotyped clinical repository of Indian PD patients; (2) perform whole-genome sequencing in 500 PD samples to catalog Indian genetic variability and to develop an Indian PD map for the scientific community; (3) perform a genome-wide association study to identify novel loci for PD and (4) develop a user-friendly web-portal to disseminate results for the scientific community. Our "hub-spoke" model follows an integrative approach to develop a pan-Indian outreach to develop a comprehensive cohort for PD research in India. The alignment of standard operating procedures for recruiting patients and collecting biospecimens with international standards ensures harmonization of data/bio-specimen collection at the beginning and also ensures stringent quality control parameters for sample processing. Data sharing and protection policies follow the guidelines established by local and national authorities.We are currently in the recruitment phase targeting recruitment of 10,200 PD patients and 10,200 healthy volunteers by the end of 2020. GAP-India project after its completion will fill a critical gap that exists in PD research and will contribute a comprehensive genetic catalog of the Indian PD population to identify novel targets for PD.
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http://dx.doi.org/10.3389/fneur.2020.00524DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7323575PMC
June 2020

Predicting Odontogenic Sinusitis in Unilateral Sinus Disease: A Prospective, Multivariate Analysis.

Am J Rhinol Allergy 2021 Mar 9;35(2):164-171. Epub 2020 Jul 9.

Department of Otolaryngology, Henry Ford Health System, Detroit, Michigan.

Background: Odontogenic sinusitis (ODS) is a common cause of unilateral sinus disease (USD), but can be challenging to diagnose due to nonspecific clinical presentations, potentially subtle to absent dental pathology on sinus computed tomography (CT), and underrepresentation in the sinusitis literature.

Objective: Identify sinonasal clinical variables predictive of ODS in patients presenting with unilateral maxillary sinus opacification on sinus CT.

Methods: A prospective cohort study was conducted on 131 consecutive patients with USD and at least partial or complete maxillary sinus opacification on sinus CT. Patients' demographics, sinonasal symptoms (anterior and posterior drainage, nasal obstruction, facial pressure, smell loss, and foul smell), 22-item sinonasal outcome test, nasal endoscopy findings, CT findings, and histopathology were collected. Patients' diagnoses included ODS, chronic rhinosinusitis with or without nasal polyps, and inverted papilloma. Demographic and clinical data were compared between patients with unilateral ODS and non-odontogenic disease using univariate and multivariate analyses.

Results: Of the 131 USD patients, 65 had ODS and 66 had non-odontogenic disease. The following variables were significantly associated with unilateral ODS on multivariate analysis: middle meatal pus on endoscopy (OR= 17.67, 95% CI-5.69, 54.87; p = 0.001), foul smell (OR= 6.11, 95% CI-1.64, 22.82; p=.007), facial pressure (OR= 3.55, 95% CI-1.25, 10.12; p = 0.018), and any frontal opacification on CT (OR= 5.19, 95% CI-1.68, 16.06; p = 0.004). Any sphenoid opacification on CT was inversely related to ODS (OR = 0.14, 95% CI-0.03, 0.69; p = 0.016). The study was adequately powered.

Conclusion: With unilateral maxillary sinus disease, the following features were significantly associated with ODS: foul smell, ipsilateral facial pressure, middle meatal pus on endoscopy, and any frontal sinus opacification on sinus CT. Additionally, any sphenoid sinus opacification on CT was inversely related to ODS. Presence or absence of these clinical variables can be used to increase or decrease one's suspicion of an odontogenic source of sinusitis.
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http://dx.doi.org/10.1177/1945892420941702DOI Listing
March 2021

Hydroxychloroquine and Myasthenia Gravis-Can One Take This Risk?

Ann Indian Acad Neurol 2020 May-Jun;23(3):360-361. Epub 2020 Jun 10.

Department of Neurology, Medanta Hospital, Gurugram, Haryana, India.

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http://dx.doi.org/10.4103/aian.AIAN_363_20DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7313600PMC
June 2020

Stevens-Johnson syndrome triggered by Levetiracetam-Caution for use with Carbamazepine.

Seizure 2020 08 8;80:63-64. Epub 2020 Jun 8.

Department of Neurology, All India Institute of Medical Sciences, New Delhi, India. Electronic address:

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http://dx.doi.org/10.1016/j.seizure.2020.06.004DOI Listing
August 2020

Uveitis, optic neuritis and MOG.

Mult Scler J Exp Transl Clin 2020 Apr-Jun;6(2):2055217320925107. Epub 2020 May 14.

Department of Neurology, All India Institute of Medical Sciences, India.

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http://dx.doi.org/10.1177/2055217320925107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7238848PMC
May 2020

Cortical thickness and gyrification index measuring cognition in Parkinson's disease.

Int J Neurosci 2020 May 18:1-10. Epub 2020 May 18.

Department of Neurology, AIIMS, New Delhi, India.

Cortical dynamics is driven by cortico-cortical connectivity and it characterizes cortical morphological features. These brain surface features complement volumetric changes and may offer improved understanding of disease pathophysiology. Hence, present study aims to investigate surface features; cortical thickness (CT) and gyrification index (GI) in Parkinson's disease (PD) patients of normal cognition (PD-CN), cognitively impaired patients with PD (PD-CI) in comparison with cognitively normal healthy controls (HC) to better elucidate cognition linked features in PD. Anatomical MRI (3DT1) was carried out in 30 HC (56.53 ± 8.42 years), 30 PD-CN (58.8 ± 6.07 years), and 30 PD-CI (60.3 ± 6.43 years) subjects. Whole brain ROI based parcellation using Desikan-Killiany (DK-40) atlas followed by regional CT and GI differentiation [with 'age' and 'total intracranial volume' (TIV) correction], multiple linear regression (with 'age', 'TIV', and 'education' correction) with clinical variables, ROC analysis, and CT-GI correlation across the groups was used for data analysis. Widespread cortical thinning with regional GI reduction was evident in PD-CI with respect to other two groups (HC and PD-CN), and with absence of such alterations in PD-CN compared to HC. Frontal, parietal, and temporal CT/GI significantly correlated with cognition and presented classification abilities for cognitive state in PD. Mean regional CT and GI were found negatively correlated across groups with heterogeneous regions. Fronto-parietal and temporal regions suffer cognition associated cortical thinning and GI reduction. CT may serve better discriminator properties and may be more consistent than GI in studying cognition in PD. Heterogeneous surface dynamics across the groups may signify neuro-developmental alterations in PD.
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http://dx.doi.org/10.1080/00207454.2020.1766459DOI Listing
May 2020

Saccadic Eye Movements in Young-Onset Parkinson's Disease - A BOLD fMRI Study.

Neuroophthalmology 2020 Apr 9;44(2):89-99. Epub 2019 Oct 9.

Department of NMR, All India Institute of Medical Sciences, New Delhi, India.

The objective of the present study was to understand control of saccadic eye movements in patients with young onset Parkinson's disease (YOPD) where onset of disease symptoms appears early in life (<40 years of age). Functional magnetic resonance imaging (fMRI) was performed in patients with YOPD and control subjects while they performed saccadic tasks, which consisted of a reflexive task and another task that required inhibitory control of eye movements (. Functional imaging related to saccadic eye movements in this group of patients has not been widely reported. A 1.5T MR scanner was used for structural and functional imaging. Analysis of blood-oxygen-level-dependent (BOLD) fMRI was performed using Statistical Parametric Mapping (SPM) software and compared in patients and controls. In patients with YOPD greater activation was seen significantly in the middle frontal gyrus, medial frontal gyrus, angular gyrus, cingulate gyrus, precuneus and cerebellum, when compared with the control group, during the saccadic tasks. Gap and overlap protocols revealed differential activation patterns. The abnormal activation during reflexive saccades was observed in the overlap condition, while during Go-NoGo saccades in the gap condition. The results suggest that impaired circuitry in patients with YOPD results in recruitment of more cortical areas. This increased frontal and parietal cortical activity possibly reflects compensatory mechanisms for impaired cognitive and saccadic circuitry.
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http://dx.doi.org/10.1080/01658107.2019.1652656DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7202441PMC
April 2020