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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.

Byline: Krushan. Yajnik, Nirav. Thakar, Harshad. Chovatiya, Soaham. Desai Dear Editor, Drug-induced movement disorders encompass a spectrum of conditions, including drug-induced Parkinsonism (DIP), tardive dyskinesia, tardive dystonia, akathisia, myoclonus, and [...]

Byline: Varin. Rangwala, Krushan. Yajnik, Kishti. Chhaya, Harshadkumar. Chovatiya, Soaham. Desai Sir, Thalamus is a paired forebrain structure, containing predominantly gray matter, and has dense neuronal connections with various other [...]

Background: Recent studies have advanced our understanding of the genetic drivers of Parkinson's disease (PD). Rare variants in more than 20 genes are considered causal for PD, and the latest PD genome‐wide association study (GWAS) identified 90 independent risk loci. However, there remains a gap in our understanding of PD genetics outside of the European populations in which the vast majority of these studies were focused. Objective: The aim was to identify genetic risk factors for PD in a South Asian population. Methods: A total of 674 PD subjects predominantly with age of onset (AoO) ≤50 years (encompassing juvenile, young, or early‐onset PD) were recruited from 10 specialty movement disorder centers across India over a 2‐year period; 1376 control subjects were selected from the reference population GenomeAsia, Phase 2. We performed various case‐only and case–control genetic analyses for PD diagnosis and AoO. Results: A genome‐wide significant signal for PD diagnosis was identified in the SNCA region, strongly colocalizing with SNCA region signal from European PD GWAS. PD cases with pathogenic mutations in PD genes exhibited, on average, lower PD polygenic risk scores than PD cases lacking any PD gene mutations. Gene burden studies of rare, predicted deleterious variants identified BSN, encoding the presynaptic protein Bassoon that has been previously associated with neurodegenerative disease. Conclusions: This study constitutes the largest genetic investigation of PD in a South Asian population to date. Future work should seek to expand sample numbers in this population to enable improved statistical power to detect PD genes in this understudied group. © 2023 Denali Therapeutics and The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. [ABSTRACT FROM AUTHOR]

Byline: Kishti. Chhaya, Saptak. Mankad, Maulin. Shah, Mamta. Patel, Devangi. Desai, Soaham. Desai Background: Headache is a frequently encountered symptom among patients undergoing hemodialysis. Aim: The aim of this study [...]

Byline: Divyani. Garg, Rajinder. Dhamija, Aditya. Choudhary, Ritu. Shree, Sujit. Kumar, Priyanka. Samal, Abhishek. Pathak, Pamidimukkala. Vijaya, Yareeda. Sireesha, Sruthi. Nair, Sanjay. Sharma, Soaham. Desai, Human. Sinha, Ayush. Agarwal, Ashish. [...]

Byline: Jalpan. Patel, Ishani. Patel, Devangi. Desai, Soaham. Desai, Himanshu. Pandya Sir, Brucellosis is a zoonotic disease caused by a gram-negative bacterial genus called 'Brucella.'[1] It is transmitted to humans [...]

Byline: Harshad. Chovatiya, Shilpi. Shukla, Soaham. Desai Sir, A 34-year-old male presented with recurrent focal facio-brachial seizures with and without bilateral tonic-clonic convulsions. He had chronic kidney disease (secondary to [...]

Byline: Ishani. Patel, Jalpan. Patel, Siddharth. Jindal, Devangi. Desai, Soaham. Desai Background: Current undergraduate medical academic curriculum does not emphasize on evaluation and management of dementia. The knowledge and attitude [...]

Byline: Jalpan. Patel, Ishani. Patel, Devangi. Desai, Soaham. Desai Sir, A 54-year-old male presented with acute onset vertigo, with imbalance, with swaying towards the side with dysarthria, dysphonia, and dysphagia. [...]

Byline: Jalpan. Patel, Devangi. Desai, Soaham. Desai Sir, Nummular headache (NH) is a chronic headache disorder with mild-to-moderate pressure-like pain in a small round/elliptical area of the head, lasting for [...]

Byline: Ishani. Patel, Devangi. Desai, Soaham. Desai Sir, Red ear syndrome (RES), originally described by Lance (1994), is characterized by pain and redness of one or both external ears with [...]

Byline: Bhavin. Mandowara, Alpa. Patel, Amee. Amin, Ajay. Phatak, Soaham. Desai Background: Stroke results in significant caregiver burden and strain. Objective: The main objectives of this study is to assess [...]

Byline: Indu. Bhana, Mahendra. Chourasiya, Soaham. Desai Sir, A case of a 71-year-old female, suffering from hypertension (controlled on metoprolol 25 mg/day and telmisartan 40 mg/day) for the last 4 [...]

Byline: Soaham. Desai, Fenil. Gandhi, Anand. Vaishnav Opsoclonus myoclonus syndrome (OMS) is an inflammatory neurological disorder, which is characterized by chaotic uncontrolled movements of the eyes and involuntary jerk-like movements [...]

Introduction/Aims: Studies conducted during the coronavirus disease 2019 (COVID 19) pandemic have reported varied data regarding the incidence of Guillain--Barre syndrome (GBS). The present study investigated demographic and clinical features, management, and outcomes of patients with GBS during a specified period of the COVID 19 pandemic, and compared these features to those of GBS in the previous year. Methods: A multicenter, ambispective cohort study including 26 centers across India was conducted. Data from a pre COVID 19 period (March 1 to August 31, 2019) were collected retrospectively and collected ambispectively for a specified COVID 19 period (March 1 to August 31, 2020). The study was registered with the Clinical Trial Registry India (CTRI/2020/11/029143). Results: Data from 555 patients were included for analysis: pre COVID 19 (n = 334) and COVID 19 (n = 221). Males were more commonly affected during both periods (male:female, 2:1). Gastroenteritis was the most frequent antecedent event in 2019 (17.4%), whereas fever was the most common event in 2020 (10.7%). Paraparesis (21.3% versus [vs.] 9.3%, P = 0.001) and sensory involvement (51.1% vs. 41.3%; P = 0.023) were more common during COVID 19 in 2020, whereas back pain (26.3% vs. 18.4%; P = 0.032) and bowel symptoms (20.7% vs. 13.7%; P = 0.024) were more frequent in the pre COVID period. There was no difference in clinical outcomes between the two groups in terms of GBS disability score at discharge and 3 months after discharge. Independent predictors of disability in the pre COVID period included areflexia/hyporeflexia, the requirementfor intubation, and time to bulbar weakness; in the COVID 19 period, independent predictors included time from onset to admission, intubation, and intubation requirement. The mortality rate was 2.3% during the entire study period (13/555 cases). Discussion: Results of this study revealed an overall reduction in the frequency of GBS during the pandemic. The lockdown likely reduced the risk for antecedent infections due to social distancing and improved hygiene, which may have resulted in the reduction of the frequency of GBS. [ABSTRACT FROM AUTHOR]

Different movement disorders are reported in association with infectious diseases. In addition, myoclonus can be associated with different types of viral and bacterial infections. We screened three electronic databases for cases of myoclonus as a feature of different infections and collected cases and series describing myoclonus associated with infections. Data regarding study design, sample size, neurological assessment, and diagnostic workup including brain imaging and cerebrospinal fluid analysis were extracted from the identified studies. In this narrative review, we review different infections associated with myoclonus and discuss their salient features. The infections presenting with myoclonus include predominantly subacute sclerosing panencephalitis due to measles. In addition, we describe other viral infections that are reported to associated with myoclonus. Recently, coronavirus disease 2019 infections have been reported to be increasingly associated with myoclonus. The hypothesized mechanisms of infection-related myoclonus are vasculopathy, autoimmune reactions, and inflammation. Although myoclonus is considered to be a result of heredodegenerative, metabolic, or autoimmune disorders, infections may present with myoclonus, especially in tropical and developing countries. In this review, we describe the infections that are associated with myoclonus. [ABSTRACT FROM AUTHOR]

Background: Literature suggests that the COVID-19 pandemic has resulted in poor sleep quality, especially among the infected population. However, literature regarding the effect of COVID-19 pandemic and SARS-CoV-2 infection on occurrence of insomnia, restless legs syndrome and dream enactment behavior is either scarce or unavailable. Methods: This study was planned to assess the effect of SARS-CoV-2 infection on the occurrence of insomnia, restless legs syndrome (RLS) and dream enactment behavior (DEB). For this cross-sectional study, a questionnaire comprising of items related to demographic details, past medical history, and information related to SARS-CoV-2 infection was distributed through social media. Insomnia was diagnosed using clinical criteria. RLS, DEB, sleep quality, depression and anxiety were assessed using a validated questionnaire. Information regarding the use of hypnotic medications was also gathered. Results: Of the 1596 respondents, 37.2% reported disturbed sleep while insomnia was reported by 22.6% respondents. 27.3% of respondents reported RLS and 17.4% suffered DEB. The odds of insomnia were greater among males (OR = 1.27; 95% CI: 1.03–1.58; P < 0.02) and among those who had SARS-CoV-2 infection (OR = 1.76; 95% CI = 1.42–2.19; P < 0.001). Similarly, SARS-CoV-2 infection was also associated with increased odds of RLS (OR = 2.48; 95% CI = 1.98–3.11; P < 0.001) and DEB (OR = 1.58; 95%CI = 1.21–2.06; P < 0.001). Insomnia, RLS and DEB were more frequent among respondents who required oxygen therapy, those who experienced loss of taste and/or smell, depression and anxiety. Prevalence of insomnia, DEB and RLS was higher than said prevalence among respondents with no history of SARS-CoV-2 infection, but lower than that of those with positive history of SARS-CoV-2 infection. 5.3% of respondents reported taking hypnotic medications before infection, 7% during infection and 5.3% after infection. Conclusion: SARS-CoV-2-infection-related factors in association with environmental factors have increased the prevalence of insomnia, DEB and RLS among subjects having infection. SARS-CoV-2-associated immunological changes, hypoxia and neurotropism may play a role in occurrence of insomnia, DEB and RLS. [ABSTRACT FROM AUTHOR]